sign in sign up
<<
Home , Alport syndrome, Barth syndrome, Centronuclear myopathy, Cystinosis, Fabry disease, GLUT1 deficiency

September 2020 Methodology 3

List of rare that are covered by the listed registries 4

Summary 13

1- Distribution of registries by country 13

2- Distribution of registries by coverage 14

3- Distribution of registries by affiliation 14

Distribution of registries by country 15

European registries 38

International registries 41

Rare Registries

in Europe

www.orpha.net

Table of contents

Methodology ...... 3 List of rare diseases that are covered by the listed registries (by alphabetical order) ...... 4 Summary ...... 14 1- Distribution of registries by country ...... 14 2- Distribution of registries by coverage ...... 15 3- Distribution of registries by affiliation ...... 15 List of of registries by country ...... 16 European registries ...... 48 International registries coordinated in Europe ...... 52

Orphanet Report Series - Registries in Europe - June 2020 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Methodology

Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients. Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorization is usually granted at a time when evidence is still limited although already somewhat convincing. This report gathers the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases.

The report includes data about EU countries and other countries participating to the Orphanet network. The diseases or groups of diseases covered by each register are provided with their Orpha number which is the unique identifier in the Orphanet nomenclature. Data in this report reflects the last update made in the Orphanet database by the registry holders and may not depict changes made to the registries since.

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 3 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

List of rare diseases that are covered by the listed registries (by alphabetical order)

ORPHA 79126 Acute interstitial 284 Alveolar Disease name code echinococcosis 567 22q11.2 513 Acute lymphoblastic 803 Amyotrophic lateral syndrome sclerosis 2982 46,XX disorder of sex 518 Acute 251630 Anaplastic development megakaryoblastic oligodendroglioma 98078 46,XX disorder of sex leukemia 754 Androgen insensitivity development induced 514 Acute syndrome by androgens excess monoblastic/monocyti 72 2138 46,XX ovotesticular c leukemia disorder of sex 519 Acute myeloid 1069 Aniridia-absent development leukemia patella syndrome 752 46,XY disorder of sex 517 Acute 1065 Aniridia-cerebellar development due to myelomonocytic -intellectual 17-beta- leukemia disability syndrome hydroxysteroid 35889 Acute opioid 96346 Anorectal dehydrogenase 3 poisoning malformation deficiency 520 Acute promyelocytic 88632 Anterior segment 753 46,XY disorder of sex leukemia developmental development due to 309120 Acyl-CoA anomaly 5-alpha-reductase 2 dehydrogenase 375 Anti-glomerular deficiency deficiency 325351 46,XY disorder of sex 85138 Addison disease disease development of 2299 Aortic arch endocrine origin 45 Adenosine interruption 168558 46,XY disorder of sex monophosphate 87 development-adrenal deaminase deficiency insufficiency due to 100091 Adrenal/paraganglial 320 Apparent CYP11A1 deficiency tumor mineralocorticoid 13 6-pyruvoyl- 1501 Adrenocortical excess tetrahydropterin carcinoma 90 synthase deficiency 139399 Adrenomyeloneuropa 23 Argininosuccinic 48818 Aceruloplasminemia thy aciduria 86875 Adult T-cell 15 35708 Aromatic L-amino leukemia/ acid decarboxylase 49382 Achromatopsia 829 Adult-onset Still deficiency disease 247 Arrhythmogenic right 101963 Acquired chronic 300846 Aggressive B-cell ventricular primary adrenal non-Hodgkin insufficiency lymphoma 94 Astrocytoma 73274 Acquired hemophilia 86873 Aggressive NK-cell leukemia 1168 Ataxia-oculomotor 79356 Acrokeratoderma 1164 Allergic apraxia type 1 963 Acromegaly bronchopulmonary 100 Ataxia-telangiectasia aspergillosis 99892 ACTH-dependent 60 Alpha-1-antitrypsin 370109 Ataxia-telangiectasia Cushing syndrome deficiency variant 318 Acute erythroid 61 Alpha-mannosidosis 251347 Ataxia-telangiectasia- leukemia like disorder 293173 Acute generalized 846 Alpha- 1201 Atresia of small exanthematous intestine 63 pustulosis 85447 ATTRV30M 98916 Acute inflammatory 64 Alström syndrome demyelinating 2134 Atypical hemolytic polyradiculoneuropat 2131 Alternating uremic syndrome hy hemiplegia of 98375 Autoimmune 79276 Acute intermittent childhood hemolytic porphyria

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 4 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

2137 Autoimmune hepatitis 274 Bernard-Soulier 79158 Cerebral organic syndrome aciduria 3261 Autoimmune 848 Beta-thalassemia 166 Charcot-Marie-Tooth lymphoproliferative disease/Hereditary syndrome 231214 Beta-thalassemia motor and sensory 3453 Autoimmune major neuropathy polyendocrinopathy 610 Bethlem 55880 type 1 3143 Autoimmune 415286 251896 Choroid plexus tumor polyendocrinopathy type 2 179 Birdshot 180 chorioretinopathy 747 Autoimmune 379 Chronic 122 Birt-Hogg-Dubé pulmonary alveolar granulomatous syndrome proteinosis disease 71203 Autoimmune 124 Blackfan-Diamond 2932 Chronic inflammatory anemia demyelinating 93665 Autoinflammatory 90340 Blau syndrome polyneuropathy syndrome 16 Blue cone 521 Chronic myeloid 99 Autosomal dominant leukemia cerebellar ataxia monochromatism 223727 324964 Chronic nonbacterial 98352 Autosomal dominant osteomyelitis/Chronic disease with diffuse 168598 Brain demyelination recurrent multifocal palmoplantar due to osteomyelitis as a adenosyltransferase 101959 Chronic primary major feature deficiency adrenal insufficiency 266 Autosomal dominant 352649 Brain dopamine- 247525 type I limb-girdle muscular serotonin vesicular dystrophy type 1A transport disease 466026 Class I -6- 730 Autosomal dominant 97287 Bronchial phosphate polycystic neuroendocrine tumor dehydrogenase disease deficiency 1303 Bronchiolitis 34149 Autosomal dominant obliterans with 71277 Classic glucose tubulointerstitial obstructive pulmonary transporter type 1 disease deficiency syndrome 79278 Autosomal 70589 Bronchopulmonary 391 Classic Hodgkin erythropoietic dysplasia lymphoma protoporphyria 131 Budd-Chiari 394 Classic 281217 Autosomal syndrome syndrome 543 79163 Classic organic 281097 Autosomal recessive aciduria congenital ichthyosis 329931 C3 1991 Cleft lip with or 101150 Autosomal recessive without cleft palate dopa-responsive 280062 Calciphylaxis 2014 Cleft palate 137667 Capillary 31824 poisoning 731 Autosomal recessive malformation- polycystic kidney arteriovenous disease 468672 Colobomatous malformation macrophthalmia- 2512 Autosomal recessive 147 Carbamoyl-phosphate microcornea primary synthetase 1 syndrome 300345 Autosomal systemic deficiency 1198 Colonic atresia erythematosus 56044 Carcinoma of 782 Axenfeld-Rieger gallbladder and 35909 Combined deficiency syndrome extrahepatic biliary of factor V and factor 67038 B-cell chronic tract VIII lymphocytic leukemia 97286 Carney-Stratakis 1572 Common variable 86852 B-cell prolymphocytic syndrome leukemia 464343 Catastrophic 1329 Complete 110 Bardet-Biedl antiphospholipid atrioventricular septal syndrome syndrome defect 111 3027 Caudal regression 1872 Cone rod dystrophy sequence 112 Bartter syndrome 973 Congenital 86870 CD4+/CD56+ absence/hypoplasia hematodermic 98895 Becker muscular of fingers excluding neoplasm dystrophy thumb, unilateral 597 116 Beckwith-Wiedemann 418 Congenital adrenal syndrome 595 Centronuclear hyperplasia 117 Behçet disease myopathy

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 5 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

3319 Congenital 3091 Congenital systemic 31828 Digitalis poisoning amegakaryocytic veins anomaly thrombocytopenia 93583 Congenital thrombotic 226 Dihydropteridine 48 Congenital bilateral thrombocytopenic reductase deficiency absence of vas 309830 Disorder of deferens 169826 Congenital vitamin K- catecholamine 2140 Congenital dependent synthesis diaphragmatic hernia factors 79175 Disorder of gamma- 137 Congenital disorder of deficiency aminobutyric acid glycosylation 860 Congenitally 85 Congenital uncorrected 309819 Disorder of pterin dyserythropoietic transposition of the metabolism anemia great arteries 90771 Disorder of sex 98873 Congenital 2445 Conotruncal development dyserythropoietic malformations 79167 Disorder of anemia type II 293830 Constitutional metabolism and 327 Congenital factor VII dyserythropoietic ammonia deficiency anemia detoxification 329 Congenital factor XI 319651 Constitutional 599 Distal myopathy deficiency with severe 18 Distal renal tubular 331 Congenital factor XIII deficiency neurologic disease 252202 Constitutional 34516 DNAJB6-related limb- 2020 Congenital fiber-type girdle muscular disproportion mismatch repair deficiency syndrome dystrophy D1 myopathy 70594 Dopa-responsive 335 Congenital fibrinogen 101987 Constitutional dystonia due to deficiency sepiapterin reductase 174590 Congenital 98038 Cranial malformation deficiency hypogonadotropic 208650 Cryopyrin-associated 230 Dopamine beta- hypogonadism periodic syndrome hydroxylase 442 Congenital 553 Cushing syndrome deficiency hypothyroidism 870 1928 Congenital lobar 79140 Cutaneous emphysema neuroendocrine 33069 Dravet syndrome 69063 Congenital carcinoma 139402 Drug rash with membranous 400 Cystic echinococcosis nephropathy due to and fetomaternal anti- 586 Cystic fibrosis systemic symptoms neutral 262 Duchenne and endopeptidase 213 Becker muscular alloimmunization dystrophy 397587 Deep 98896 Duchenne muscular 97242 Congenital muscular dermatophytosis dystrophy dystrophy 1652 Dent disease 370953 Congenital muscular 1203 Duodenal atresia dystrophy due to 220 Denys-Drash 303 Dystrophic dystroglycanopathy syndrome 75840 Congenital muscular 221 Dermatomyositis 91492 Early-onset non- dystrophy, Ullrich type syndromic 590 Congenital 98909 Desminopathy 1880 Ebstein malformation myasthenic syndrome 873 Desmoid tumor 97245 98249 Ehlers-Danlos 83469 Desmoplastic small syndrome 98904 Congenital myopathy round cell tumor 289 Ellis Van Creveld with excess of thin syndrome filaments 98553 Developmental defect of the eye 261 Emery-Dreifuss 206973 Congenital 1666 Dextrocardia 2444 Congenital pulmonary 85438 Enthesitis-related airway malformation 98043 Diaphragmatic or juvenile idiopathic abdominal wall arthritis 2414 Congenital pulmonary malformation lymphangiectasia 301 Ependymal tumor 146 Differentiated 3161 Congenital pulmonary carcinoma 302 Epidermodysplasia sequestration 90060 Diffuse alveolar verruciformis 3090 Congenital pulmonary hemorrhage 257 Epidermolysis bullosa venous return simplex with muscular anomaly 497188 Diffuse intrinsic pontine glioma dystrophy 2040 Congenital 79355 Erythrokeratoderma respiratory-biliary 544 Diffuse large B-cell fistula lymphoma Orphanet Report Series - Rare Disease Registries in Europe - June 2020 6 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

1199 Esophageal atresia 1866 Focal, segmental or 25 Glutaryl-CoA multifocal dystonia dehydrogenase 3318 Essential 86902 Follicular dendritic cell deficiency sarcoma 407 31826 Ethylene glycol 545 encephalopathy poisoning 365 Glycogen storage 1959 51208 Formiminoglutamic disease due to acid aciduria maltase deficiency 883 Extragonadal 2795 Fowler urethral teratoma 367 Glycogen storage sphincter dysfunction disease due to 324 syndrome glycogen branching 141229 Facial cleft 347 Frasier syndrome deficiency 366 Glycogen storage 269 Facioscapulohumeral 95 Friedreich ataxia disease due to dystrophy 98535 Frontotemporal glycogen debranching 733 Familial adenomatous degeneration with enzyme deficiency polyposis dementia 284426 Glycogen storage 404560 Familial atypical 227796 Fundus albipunctatus disease due to lactate multiple mole dehydrogenase M- syndrome 519930 Fungal keratitis subunit deficiency 313846 Familial cutaneous 137625 Glycogen storage telangiectasia and 352 disease due to oropharyngeal muscle and heart 314022 Gastric predisposition glycogen synthase adenocarcinoma and deficiency syndrome proximal polyposis of 99849 Glycogen storage 540 Familial the stomach disease due to hemophagocytic 36273 Gastric linitis plastica lymphohistiocytosis muscle beta-enolase 93372 Familial hypocalciuric 100092 Gastroenteropancreat deficiency hypercalcemia type 1 ic neuroendocrine 368 Glycogen storage 342 Familial neoplasm disease due to Mediterranean 44890 Gastrointestinal muscle glycogen phosphorylase 99361 Familial medullary stromal tumor deficiency thyroid carcinoma 2368 Gastroschisis 618 Familial melanoma 371 Glycogen storage 355 Gaucher disease disease due to 569 Familial or sporadic muscle hemiplegic migraine 77259 Gaucher disease type phosphofructokinase 213517 Familial ovarian 1 deficiency cancer 77260 Gaucher disease type 713 Glycogen storage 1333 Familial pancreatic 2 disease due to carcinoma 77261 Gaucher disease type phosphoglycerate 1 deficiency 319487 Familial papillary or 3 follicular thyroid 36387 Generalized 97234 Glycogen storage carcinoma with febrile - disease due to phosphoglycerate 31043 Familial primary plus mutase deficiency hypomagnesemia 101960 Genetic chronic with hypercalciuria primary adrenal 370 Glycogen storage and insufficiency disease due to without severe ocular 183497 Genetic phosphorylase kinase involvement neuromuscular deficiency 1331 Familial prostate disease 602 GNE myopathy 435554 Genetic precocious cancer 377 Gorlin syndrome 231108 Familial rhabdoid puberty tumor 34526 Genetic primary 53693 GRACILE syndrome 84 hypomagnesemia 183592 Genetic renal tubular 900 Granulomatosis with 101039 Female restricted disease polyangiitis epilepsy with 656 Genetic steroid- 721 Gray resistant 1987 Femoral syndrome 2102 GTP cyclohydrolase I agenesis/hypoplasia 358 deficiency 853 Fetal and neonatal 168569 H syndrome alloimmune 849 Glanzmann thrombocytopenia thrombasthenia 99803 Haddad syndrome 34515 FKRP-related limb- 360 Glioblastoma 73229 HANAC syndrome girdle muscular dystrophy R9 163596 Hb Bart's Orphanet Report Series - Rare Disease Registries in Europe - June 2020 7 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

2130 388 Hirschsprung disease 49041 IgG4-related retroperitoneal 139491 Hemochromatosis 86896 Histiocytic sarcoma fibrosis type 4 2162 Holoprosencephaly 3002 Immune 68364 thrombocytopenia 766 395 Homocystinuria due 98290 Immunodeficiency- due to red cell to methylene associated pyruvate kinase tetrahydrofolate lymphoproliferative deficiency reductase deficiency disease 158032 Hemophagocytic 3322 Hoyeraal-Hreidarsson 761 syndrome syndrome vasculitis 448 Hemophilia 56970 Human prion disease 52430 Inclusion body myopathy with Paget 98878 Hemophilia A 399 Huntington disease disease of bone and frontotemporal 98879 Hemophilia B 2182 Hydrocephalus with dementia stenosis of the 611 Inclusion body aqueduct of Sylvius 890 Hepatic veno- myositis occlusive disease 927 178557 Indolent primary due to N- 449 Hepatoblastoma cutaneous B-cell acetylglutamate lymphoma 88673 Hepatocellular synthase deficiency 238455 Infantile dystonia- carcinoma 343 Hyperimmunoglobulin 64743 Hepatoportal emia D with periodic sclerosis fever 772 Infantile Refsum disease 91378 Hereditary 289891 due to glycine N- 90003 Inflammatory 100050 Hereditary methyltransferase pseudotumor of the angioedema type 1 deficiency 100051 Hereditary 289290 Hypermethioninemia 140162 Inherited cancer- angioedema type 2 encephalopathy due predisposing syndrome 145 Hereditary breast and to adenosine kinase 319462 Inherited cancer- ovarian cancer deficiency syndrome 415 Hyperornithinemia- predisposing hyperammonemia- syndrome due to 227535 Hereditary breast biallelic BRCA2 cancer homocitrullinuria syndrome 676 Hereditary chronic 79361 Inherited pancreatitis 99880 Hyperparathyroidism- jaw tumor syndrome epidermolysis bullosa 79273 Hereditary 252190 Inherited nervous coproporphyria 238583 Hyperphenylalaninem ia due to system cancer- 26106 Hereditary diffuse predisposing gastric cancer tetrahydrobiopterin deficiency syndrome 2024 Hereditary gingival 319328 Inherited renal fibromatosis 31740 pneumonitis cancer-predisposing 774 Hereditary syndrome hemorrhagic 437 Hypophosphatemic rickets 71862 Inherited retinal telangiectasia disorder 523 Hereditary 2248 Hypoplastic left heart syndrome 1478 Interatrial leiomyomatosis and communication 79354 Ichthyosis renal cell cancer 86900 Interdigitating 443909 Hereditary 60033 Idiopathic dendritic cell sarcoma nonpolyposis colon 37202 Interstitial cystitis cancer 182101 Idiopathic eosinophilic 79357 Hereditary pneumonia 182095 Interstitial palmoplantar disease keratoderma 33208 Idiopathic hypersomnia 264735 Interstitial lung 29072 Hereditary disease specific to 98482 Idiopathic pheochromocytoma- adulthood paraganglioma 104010 Intestinal polyposis 264675 Hereditary pulmonary syndrome alveolar proteinosis 98300 Idiopathic interstitial pneumonia 1048 Isolated 94088 Hereditary renal anencephaly/exencep 2032 Idiopathic pulmonary haly fibrosis 213524 Hereditary site- 250923 Isolated aniridia 99931 Idiopathic pulmonary specific ovarian cancer syndrome hemosiderosis 557 Isolated anorectal 98365 Hereditary 284264 IgG4-related disease malformation stomatocytosis 30391 Isolated biliary atresia

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 8 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

2542 Isolated 144 Lynch syndrome 98555 Microphthalmia- microphthalmia- anophthalmia- anophthalmia- 309337 Lysosomal glycogen coloboma coloboma storage disease 568 Microphthalmia, Lenz 718 Isolated Pierre Robin 592 Macrophagic type syndrome myofasciitis 83463 Microtia 2924 Isolated polycystic 673 liver disease 68380 679 Malignant atrophic 823 Isolated spina bifida papulosis 217613 Mitochondrial disease 2440 Isolated split hand- 423 Malignant with dilated split foot malformation hyperthermia of cardiomyopathy 33 anesthesia 225700 Mitochondrial disease 168999 Malignant melanoma with epilepsy 474 Jeune syndrome of the mucosa 217587 Mitochondrial disease 293181 Malignant migrating with hypertrophic 220497 Joubert syndrome focal seizures of cardiomyopathy with renal defect infancy 225703 Mitochondrial disease 248111 Juvenile Huntington 398043 Malignant tumor of with peripheral disease penis neuropathy 92 Juvenile idiopathic 52417 MALT lymphoma 206966 Mitochondrial arthritis myopathy 2322 Kabuki syndrome 52416 552 MODY

2331 Kawasaki disease 558 3057 Monoamine oxidase A deficiency 2908 300912 Marginal zone 98503 Motor neuron disease lymphoma 99978 Klatskin tumor 559 Marinesco-Sjögren 575 Muckle-Wells 33543 Kleine-Levin syndrome syndrome syndrome 98292 79213 Mucopolysaccharidosi s 99749 Kostmann syndrome 3097 Meacham syndrome 579 Mucopolysaccharidosi 59135 Laing early-onset 2006 Median cleft s type 1 distal myopathy lip/mandibule 580 Mucopolysaccharidosi 258 subunit alpha 1332 Medullary thyroid s type 2 2-related congenital carcinoma 641 Multifocal motor muscular dystrophy 616 Medulloblastoma neuropathy 98301 Laminopathy 68341 Multiple congenital 97338 Melanoma of soft anomalies/dysmorphi 389 Langerhans cell tissue c syndrome 31825 Methanol poisoning 652 Multiple endocrine 86897 Langerhans cell neoplasia type 1 sarcoma 2169 Methylcobalamin 247698 Multiple endocrine 626 Large congenital deficiency type cblE neoplasia type 2A melanocytic 2170 Methylcobalamin 247709 Multiple endocrine 1202 Larynx atresia deficiency type cblG neoplasia type 2B 26 Methylmalonic 276152 Multiple endocrine 65 Leber congenital acidemia with neoplasia type 4 amaurosis homocystinuria 29073 54260 Left ventricular 79284 Methylmalonic noncompaction acidemia with 321 Multiple 549 Legionellosis homocystinuria type cblF 137605 Legius syndrome 228145 79282 Methylmalonic variant 2382 Lennox-Gastaut acidemia with 102 Multiple system syndrome homocystinuria, type atrophy cblC 68356 Leukodystrophy 588 Muscle-eye-brain 369955 Methylmalonic disease 524 Li-Fraumeni acidemia with syndrome homocystinuria, type 71864 Muscular 263 Limb-girdle muscular cblJ dystrophy 280183 Methylmalonic 98473 Muscular dystrophy 69663 Low phospholipid- aciduria due to 247798 MUTYH-related associated transcobalamin attenuated familial cholelithiasis defect adenomatous 538 Lymphangioleiomyom 83642 polyposis atosis with liver iron 589 223735 Lymphoma overload

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 9 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

52688 Myelodysplastic 467 Non-acquired 1330 Partial atrioventricular syndrome combined pituitary septal defect 98274 Myeloproliferative hormone deficiency 93126 Pauci-immune neoplasm 631 Non-acquired isolated glomerulonephritis 182050 MYH9-related growth hormone 33402 Pediatric disease deficiency hepatocellular 593 Myofibrillar myopathy 94080 Non-functioning carcinoma paraganglioma 93552 Pediatric systemic 206647 547 Non-Hodgkin lupus erythematosus lymphoma 2073 Narcolepsy type 1 206976 157987 Non-Langerhans cell 83465 Narcolepsy type 2 histiocytosis 709 Peters plus syndrome 91364 Non-specific 2869 Peutz-Jeghers 150 Nasopharyngeal interstitial pneumonia carcinoma syndrome 498467 Non-syndromic 42642 PFAPA syndrome 607 postaxial polydactyly 498464 Non-syndromic 654 Nephroblastoma 716 preaxial polydactyly 223 Nephrogenic 165704 Non-syndromic 99408 Pituitary adenoma urogenital tract insipidus 50251 Pleural mesothelioma 137617 Nephrogenic systemic malformation fibrosis 648 64742 Pleuropulmonary 655 blastoma 98733 Noonan syndrome 2911 3388 Neural tube defect and Noonan-related syndrome 79358 263440 3032 NPHP3-related Meckel-like syndrome 101330 Porphyria cutanea 635 Neuroblastoma 1125 Ocular motor apraxia, tarda 2481 Neurocutaneous Cogan type 79473 Porphyria variegata 157962 Oculoauricular melanocytosis 739 Prader-Willi syndrome 385 syndrome, Schorderet with brain iron type 99860 Precursor B-cell acute accumulation 534 Oculocerebrorenal lymphoblastic 306719 Neurodegenerative syndrome of Lowe leukemia disease with 660 Omphalocele 186 Primary biliary cholangitis 217382 Neurodegenerative 661 Ondine syndrome syndrome due to 46135 Primary central cerebral folate 2086 Optic pathway glioma nervous system transport deficiency lymphoma 877 Neuroendocrine 289899 Organic aciduria 244 Primary ciliary neoplasm dyskinesia 664 Ornithine 636 541 Primary cutaneous transcarbamylase type 1 CD30+ T-cell deficiency 637 Neurofibromatosis lymphoproliferative 139039 Orofacial clefting type 2 disease syndrome 2678 Neurofibromatosis 542 Primary cutaneous 666 Osteogenesis type 6 lymphoma imperfecta 35705 Neurometabolic 416 Primary hyperoxaluria 399293 Osteonecrosis of the disorder due to serine jaw deficiency 101997 Primary 2781 and immunodeficiency 68381 Neuromuscular related disorders disease 35689 Primary lateral 668 sclerosis 71211 Neuromyelitis optica 168807 Primary malignant 213500 Ovarian cancer 216 Neuronal ceroid peritoneal tumor lipofuscinosis 93460 Overgrowth syndrome 54370 Primary 77292 Niemann-Pick membranoproliferativ disease type A 677 Pancreatoblastoma e glomerulonephritis 77293 Niemann-Pick 824 disease type B 31827 Paraquat poisoning 168803 Primary peritoneal 646 Niemann-Pick 143 Parathyroid tumor disease type C carcinoma 2420 Primary pulmonary 647 Nijmegen breakage 851 Paris-Trousseau lymphoma syndrome thrombocytopenia 171 Primary sclerosing 240760 Nijmegen breakage 447 Paroxysmal nocturnal cholangitis syndrome-like hemoglobinuria disorder

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 10 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

854 Primitive portal vein 101945 Rare 158300 Rare genetic bronchopulmonary 35 tumor 307052 Rare genetic 97929 Rare cardiac disease parkinsonian disorder 606 Proximal myotonic 96344 Rare gynecologic or myopathy 218436 Rare cardiac rhythm obstetric disease disease 70 Proximal spinal 97992 Rare hematologic muscular atrophy 167848 Rare cardiomyopathy disease 756 Pseudohypoaldostero 248308 Rare hemorrhagic nism type 1 68335 Rare chromosomal anomaly disorder 757 Pseudohypoaldostero 248315 Rare hemorrhagic nism type 2 98028 Rare disease disorder due to a 97593 Pseudohypoparathyro 88991 Rare congenital non- coagulation factors idism defect syndromic heart 758 Pseudoxanthoma malformation 68334 Rare hemorrhagic elasticum 183651 Rare constitutional disorder due to a 88618 Psychomotor delay anemia constitutional due to S- coagulation factors adenosylhomocystein 535 Rare cutaneous lupus defect erythematosus e hydrolase 71202 Rare hemorrhagic deficiency 68361 Rare deafness disorder due to a 306498 PTEN 93890 Rare developmental constitutional platelet tumor syndrome defect during anomaly 1578 Pterin-4 alpha- embryogenesis 275729 Rare hemorrhagic carbinolamine 139030 Rare developmental disorder due to a dehydratase defect with connective constitutional deficiency tissue involvement thrombocytopenia 182090 Pulmonary arterial 101952 Rare diabetes 101943 Rare hepatic and hypertension mellitus biliary tract tumor 69126 Pyogenic arthritis- 98059 Rare digestive tumor 57146 Rare hepatic disease -acne 280275 Rare disease 183518 Rare hereditary ataxia syndrome 220489 Rare hereditary 207090 Qualitative or 98032 Rare disease in hemochromatosis quantitative defects of anaesthesiology 6 98066 Rare disease in 217454 Rare hereditary 207085 Qualitative or plastic and quantitative defects of reconstructive surgery 98004 Rare immune disease 98067 Rare disease in 68367 Rare inborn errors of surgical orthopedic 209188 Qualitative or metabolism quantitative defects of 108999 Rare disorder due to 68416 Rare infectious emerin toxic effects disease 207119 Qualitative or 506207 Rare disorder 98047 Rare infertility quantitative defects of potentially indicated FKRP for transplant 104012 Rare inflammatory 207052 Qualitative or 101953 Rare bowel disease quantitative defects of 87277 Rare intellectual sarcoglycan 68363 Rare dystonia disability 209053 Qualitative or 97978 Rare endocrine 117569 Rare intestinal quantitative defects of disease disease 101998 Rare epilepsy 180257 Rare malignant breast 93321 Radial hemimelia tumor 97935 Rare 71289 Radio-ulnar 68329 Rare maxillo-facial gastroenterologic surgical disease synostosis- disease amegakaryocytic 250908 Rare neoplastic thrombocytopenia 101936 Rare disease syndrome gastroesophageal 98062 Rare 165711 Rare abdominal tumor surgical disease 180821 Rare 98006 Rare neurologic gastroesophageal 98050 Rare allergic disease disease tumor 98026 Rare odontologic 102002 Rare ataxia 183625 Rare genetic diabetes disease mellitus 97966 Rare ophthalmic 93419 Rare 98053 Rare genetic disease disorder 68411 Rare 391799 Rare genetic dystonia 98036 Rare otorhinolaryngologic 180250 Rare breast tumor 101435 Rare genetic eye disease disease

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 11 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

98061 Rare 90052 Recurrent 275752 otorhinolaryngologic virus induced liver and related diseases tumor disease in liver 1047 101937 Rare pancreatic transplant recipients disease 60032 Recurrent respiratory 813 Silver-Russell 181415 Rare primary papillomatosis syndrome hyperaldosteronism 97239 Reducing body 816 Sjögren-Larsson 101944 Rare pulmonary myopathy syndrome disease 773 Refsum disease 319 Skeletal Ewing 71198 Rare pulmonary sarcoma hypertension 1848 , 820 Sneddon syndrome bilateral 93626 Rare renal disease 566243 Resistance to thyroid 64753 Spinocerebellar 93619 Rare renal tumor hormone due to a ataxia with axonal in thyroid neuropathy type 2 97955 Rare respiratory 247234 Sporadic adult-onset disease beta ataxia of unknown 89826 Rare disease 791 etiology 276621 Sporadic 79386 Rare skin tumor or 790 Retinoblastoma pheochromocytoma/s hamartoma ecreting 71209 Rare soft tissue tumor 90050 of paraganglioma prematurity 826 Sporotrichosis 138221 Rare 778 sucking/swallowing 500481 Squamous cell disorder 69077 Rhabdoid tumor carcinoma of salivary 97965 Rare surgical cardiac 85408 Rheumatoid factor- glands disease negative polyarticular 494547 Squamous cell 98065 Rare surgical juvenile idiopathic carcinoma of the neurologic disease arthritis hypopharynx 97962 Rare surgical thoracic 85435 Rheumatoid factor- 494550 Squamous cell disease positive polyarticular carcinoma of the 98023 Rare systemic or juvenile idiopathic larynx rheumatologic arthritis 500464 Squamous cell disease 59315 Rhombencephalosyn carcinoma of the 280342 Rare systemic or apsis nasal cavity and rheumatological 140976 RHYNS syndrome paranasal sinuses disease of childhood 502363 Squamous cell 52662 Rare teratologic 1440 Ring carcinoma of the oral disease syndrome cavity 248361 Rare thrombotic 158014 Rosaï-Dorfman 500478 Squamous cell disorder due to a disease carcinoma of the constitutional 2909 Rothmund-Thomson oropharynx coagulation factors syndrome 827 Stargardt disease defect 140969 Saldino-Mainzer 98057 Rare tumor syndrome 273 Steinert myotonic dystrophy 797 Sarcoidosis 104011 Rare tumor of 36426 Stevens-Johnson intestine 799 Schizencephaly syndrome 180824 Rare tumor of 95455 Stevens-Johnson pancreas 93921 Schwannomatosis syndrome/toxic 101433 Rare urogenital epidermal necrolysis disease 801 Scleroderma spectrum 182114 Rare urogenital tumor 3156 Senior-Loken 98557 Syndromic aniridia syndrome 180151 Rare vaginal 182228 Systemic autoimmune malformation 42738 Severe congenital disease neutropenia 68362 Rare vascular 188 Systemic capillary disease 745 Severe hereditary leak syndrome thrombophilia due to 536 Systemic lupus 101938 Rare vascular liver congenital C erythematosus disease deficiency 158 Systemic primary 211237 Rare 3162 Sézary syndrome carnitine deficiency 268114 RAS-associated 90038 Shiga toxin- 90291 Systemic sclerosis autoimmune associated hemolytic leukoproliferative uremic syndrome 85414 Systemic-onset disease juvenile idiopathic 811 Shwachman-Diamond arthritis 461 Recessive X-linked syndrome ichthyosis 86872 T-cell large granular 232 Sickle cell anemia lymphocyte leukemia

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 12 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

171918 T-cell non-Hodgkin 286 Vascular Ehlers- lymphoma Danlos syndrome 86871 T-cell prolymphocytic 52759 Vasculitis leukemia 842 Testicular 28 Vitamin B12- seminomatous germ responsive cell tumor 3303 Tetralogy of Fallot 27 Vitamin B12- 86846 Therapy related acute unresponsive and methylmalonic myelodysplastic acidemia syndrome 892 Von Hippel-Lindau 49827 Thiamine-responsive disease megaloblastic anemia 903 Von Willebrand syndrome disease 67044 Thrombocytopenia 893 WAGR syndrome with congenital dyserythropoietic 899 Walker-Warburg anemia syndrome 3320 Thrombocytopenia- 904 absent radius syndrome 905 Wilson disease 93573 Thrombotic 906 Wiskott-Aldrich microangiopathy syndrome 54057 Thrombotic 1667 Wolcott-Rallison thrombocytopenic syndrome purpura 3463 Wolfram syndrome 100100 Thymic tumor 43 X-linked 99867 adrenoleukodystroph y 100088 Thyroid carcinoma 178461 X-linked myopathy 100087 Thyroid tumor with postural muscle atrophy 99886 Transient neonatal 431272 X-linked diabetes mellitus scapuloperoneal 3378 13 muscular dystrophy 910 Xeroderma 3380 Trisomy 18 pigmentosum 3384 Truncus arteriosus 876 Yolk sac tumor

805 Tuberous sclerosis 3471 Young syndrome complex 2828 Young-onset 32960 Tumor necrosis factor Parkinson disease receptor 1 associated 73263 Zygomycosis periodic syndrome 68347 Tumor of hematopoietic and lymphoid tissues 363472 Tumor of testis and paratestis 881

88950 UMOD-related autosomal dominant tubulointerstitial kidney disease 117594 Unclassified rare disease 83001 Urogenital tract malformation 886

180062 Uterovaginal malformation 39044 Uveal melanoma

Orphanet Report Series - Rare Disease Registries in Europe - June 2020 13 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Summary 1- Distribution of registries by country

COUNTRY REGIONAL NATIONAL EUROPEAN INTERNATIONAL** TOTAL AT - Austria 6 26 2 3 37 BE - Belgium 2 15 3 2 22 BG - Bulgaria 0 8 0 0 8 CH - Switzerland* 1 18 1 5 25 CY - Cyprus 0 2 0 0 2 CZ - Czechia 0 5 0 0 5 DE - Germany 10 103 19 26 158 DK - Denmark 1 4 0 0 5 EE - Estonia 0 3 0 0 3 ES - Spain 11 48 4 1 64 FI - Finland 0 7 0 0 7 FR - France 19 104 21 6 150 GB - United Kingdom of Great Britain and 0 47 14 15 76 Northern Ireland (the) GR - Greece 0 3 0 0 3 HR - Croatia 0 2 0 0 2 HU - Hungary 0 5 0 0 5 IE - Ireland 3 14 0 0 17 IL - Israel* 0 2 0 0 2 IS - Iceland* 0 2 0 0 2 IT - Italy 13 64 5 7 89 LT - Lithuania 0 1 0 0 1 LU - Luxembourg 0 1 0 0 1 LV - Latvia 0 1 0 0 1 MK - Republic of North Macedonia* 0 1 0 0 1 MT - Malta 0 2 0 0 2 NL - Netherlands (the) 1 15 11 11 38 NO - Norway* 0 4 3 0 7 PL - Poland 3 7 0 0 10 PT - Portugal 5 11 0 0 16 RO - Romania 0 2 0 0 2 RS - Serbia* 0 4 0 0 4 SE - Sweden 0 16 1 1 18 SI - Slovenia 0 2 0 0 2 SK - Slovakia 0 2 0 0 2 TR - Turkey* 0 5 0 0 5 UA - Ukraine* 0 1 0 0 1 TOTAL 75 557 84 77 793

*Neighbour countries participating to the Orphanet network. **Beyond Europe.

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 14 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

2- Distribution of registries by coverage

COVERAGE NUMBER OF REGISTRIES* Regional 75 National 557 European 84 International** 77 TOTAL 793

*All registries, including heads of registries networks and their nodes, are counted. **Beyond Europe.

3- Distribution of registries by affiliation

6%

11%

Private for profit Private non-profit Public

83%

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 15 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

List of of registries by country

Please note that some ERN registries are still being developed and not yet functional, they are listed only for reference.

AT - Austria (37 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): ALL- National Public Registry and Biobank AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): Austrian National Public Registry on Hypomethylating Agents in Myeloid Neoplasms AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): Head and National Public neck tumor registry Austria AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): MBC- National Public Registry (Metastatic breast cancer in Austria) AGMT (Arbeitsgemeinschaft medikamentöse Tumortherapie): PTCL National Public registry (T-cell lymphoma in Austria) Austrian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Austrian brain tumor registry National Public

Austrian cancer registry National Public

Austrian chronic myeloid leukemia registry National Public Austrian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Austrian GIST registry National Public Austrian Hemophilia Registry - Registry for National Public patients with inborn coagulation defects Austrian myeloma registry National Public Austrian registry for inborn errors of National Public metabolism Austrian Registry on Acquired Hemophilia National Public Austrian severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR) Bone and soft tissue tumor registry Graz Regional Public Central data registry of the European Competence Network on Mastocytosis European Public (ECMN) Ceprotin Treatment Registry National Public Cleft registry of the Austrian Cleft Palate National Public Craniofacial Association Disorders of Cornification Innsbruck Regional Public

EB Registry Austria National Public EMSA-SG: central patient registry of the International Public European multiple system atrophy network ENRAH: European alternating hemiplegia International Public and rare registry in childhood

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 16 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Innsbruck registry for Adamantiades-Behcet disease: Retrospective and prospective data Regional Public collection International aHUS registry International Public MDS: Austrian myelodysplastic syndromes patient registry - contributes to the European National Public Myelodysplastic Syndromes (MDS) Registry NF-10 - Prospective collection of potentially prognostically relevant data in patients with National Public indolent non-follicular B-cell lymphoma Non-Interventional, web-based Registry for National Public Histiocytic Disorders Registry for - positive acute lymphoblastic leukemia in National Public childhood and Registry for relapsing acute lymphoblastic National Public leukemia in childhood and adolescence Registry of the NHL-BFM study group for all subtypes of Non- in National Public children and adolescents Registry of the University Clinic of Oral and Regional Public Maxillofacial Surgery Salzburg syndrome registry Graz Regional Public Styrian registry of congenital anomalies - Regional Public contributes to the EUROCAT network Thromboreductin-Registry European Private for profit

Upshaw-Schulman-Syndrome registry National Public

BE - Belgium (22 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Antwerpen registry of congenital anomalies - Regional Public contributes to the EUROCAT network Belgian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Belgian contribution to the international rare National Public disorders registry (RBDD) Belgian Cystic Fibrosis patient Registry (BCFR) - contributes to the EUROCARE CF National Public and the ECFS registries Belgian familial adenomatous polyposis National Public registry Belgian familial Lynch syndrome registry National Public Belgian Neuromuscular Diseases Registry National Public (BNMDR) Belgian registry of primary - contributes to the National Public ESID European registry Belgian severe chronic neutropenia patient registry - contributes to the Severe Chronic National Public Neutropenia International Registry (SCNIR) Belgian sickle cell anemia registry National Public

Belgian systemic sclerosis cohort National Public

Central Registry of Rare Diseases (CRRD) National Public

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 17 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ENETS: European Neuroendocrine Tumour European Public Registry ENRAH: Belgian contribution to European registry for alternating hemiplegia in National Public childhood ERN [EpiCARE] - EPICARE-GRANT: An Operational EPICARE Registry for all Rare European Public and Complex Epilepsies EUNEFRON: registry of the European network for the study of orphan European Public nephropathies EURECHINOREG: Belgian contribution to the European registry of human alveolar National Public echinococcosis EUROGLYCANET - International patient registry and cohort for congenital disorders International Public of glycosylation Haemoglobinopathies - database National Public Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT Regional Public network National Prospective Multicentre Registry on National Private for profit Hirschsprung's Disease Pediatric granulomatous arthritis International Public international registry

BG - Bulgaria (8 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Duchenne and Becker muscular dystrophy and patient National Public registries in Bulgaria - part of the TREAT- NMD network National registry of adult patients with National Private not-for-profit chronic myeloid leukemia - BG National registry of patients with Gaucher National Private not-for-profit disease - BG National registry of patients with National Private not-for-profit type II (MPS2) - BG National registry of patients with National Private not-for-profit phenylketonuria - BG National registry of patients with primary National Private not-for-profit immunodeficiencies (PID) - BG National registry of patients with National Private not-for-profit thalassaemia major - BG National registry of patients with Wilson National Private not-for-profit disease - BG

CH - Switzerland (25 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT COST Action BM1105 Patient Registry - International Public GnRH Network EUROCAT VAUD Switzerland - Registry of Regional Public congenital malformations of canton Vaud Hereditary TTP Registry International Public Intercontinental Cooperative ITP Study International Public Group Registry

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 18 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Juvenile Inflammatory Rheumatism Cohorte European Private not-for-profit (JIRcohorte) Paediatric registry for congenital pulmonary National Public malformations Perihilar Cholangiocarcinoma International International Public Registry PNH Registry: Paroxysmal Nocturnal International Private for profit Hemoglobinuria registry SACHER: Swiss Adult Congenital HEart National Private for profit disease Registry Swiss alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International National Public Registry (AIR) Swiss Autoimmune Hepatitis Cohort Study National Private not-for-profit

Swiss Childhood Cancer Registry National Public

Swiss Cleft Lip and Palate Registry National Public

Swiss Diabetes Registry (SwissDiab) National Public

Swiss Hemophilia Registry National Public

Swiss Pompe Registry National Private for profit Swiss Primary Biliary Cholangitis Cohort National Private for profit Study Swiss Primary Ciliary Dyskinesia Registry - contributing to the International PCD National Public Registry Swiss Primary Sclerosing Cholangitis Cohort National Public Study Swiss Rare Disease Registry National Public Swiss registries for Interstitial and Orphan National Public Lung Diseases (SIOLD Registries) Swiss Registry for Neuromuscular Disorders National Public Swiss registry of biliary atresia - contributes National Public to the EBAR registry Swiss SLE Cohort Study National Public SwissNET - Registry for Neuroendocrine National Public Tumours in Switzerland

CY - Cyprus (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Cyprian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry NMDcy: Cypriot Neuromuscular Diseases - National Public contributes to TREAT-NMD

CZ - Czechia (5 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Autoimmune National Public Czech cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Czech severe chronic neutropenia registry - contributes to the SCN international registry National Public (SCNIR)

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 19 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and National Public Slovakia - contributes to the TREAT-NMD network Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT- National Public NMD network

DE - Germany (158 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT ADPedKD - International, longitudinal registry including ADPKD patients followed International Private not-for-profit up from childhood. ALS registry Nordrhein-Westfalen Regional Public

ALS registry Rheinland-Pfalz Regional Public

ALS registry swabia Regional Public ARegPKD - International Registry Study on Autosomal Recessive Polycystic Kidney International Public Disease Ataxia-Telangiectasia patient registry - National Public contributes to the ESID Database Bayern population based cancer registry National Public Blue cone monochromatism - Patient International Private not-for-profit registry BMFS: Network for Congenital National Public Failure Syndromes (patient registry) Bremen cancer registry National Public CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany European Public and Austria Central Cutaneous Lymphoma Registry National Public Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT Regional Public network CERTAIN-LI: Cooperative European European Private not-for-profit Paediatric TransplAnt INitiative LIver CERTAIN: Cooperative European Paediatric European Private not-for-profit Renal Transplant Initiative registry Child liver tumor registry National Public

Children IBD registry in Saxony Regional Public CMMR: Central Malignant Melanoma National Public Registry in Germany Common cancer registry of Berlin, Brandenburg, Mecklenburg-Western Regional Public Pomerania, Saxony-Anhalt and the free states Saxony and Thuringia Conn Registry: German registry of primary National Private not-for-profit aldosteronism Core documentation of children and National Private not-for-profit adolescens with rheumatic diseases CPT-SIOP-Registry : International Registry International Private not-for-profit for Choroid Plexus Tumors CURE-Net : National registry for congenital National Public uro-rectal malformations

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 20 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

CUSTODES - Cushing syndrome registry: therapy and outcome in germany - National Private not-for-profit contributes to the ERCUSYN - European Register on Cushing's Syndrome CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in International Private not-for-profit children, adolescents, and young adults DCLLSG registry of the German CLL Study Group - Long term observation of patients National Public with CLL, B-PLL, T-PLL, SLL, T/ NK-LGL and Richter transformation DÖSAK tumor registry for documentation of tumors of the face and jaws in Germany, International Public Austria and Switzerland DYSTRACT: German Dystonia Registry National Public E-IMD : European registry and network for International Public Intoxication type Metabolic Diseases EBAR: European Biliary Atresia Registry European Public

EHDN: neuroacanthocytosis patient registry International Public EIMD: European registry and network for National Public intoxication type metabolic diseases EKRS: Saarland Cancer Registry - Regional Public contributes to the RARECARE Project Enroll-HD Registry International Private not-for-profit Epidemiological cancer registry Baden- Regional Public Württemberg ERN [ERKNet] - ERK-REG: ERKNet European Public Registry for Rare Kidney Diseases ERN [ERN-LUNG] : REGISTRY WAREHOUSE - RD Registry Data European Public Warehouse ERN [MetabERN] - UIMD: Unified European European Public Registry for Inherited Metabolic Disorders ERN [RARE-LIVER] - R-LIVER: Registry for Rare Liver Diseases of the ERN on European Public hepatological diseases ERN [RND] - ERN-RND Registry: The ERN- European Public RND Rare Neurological Disease Registry ESID: European registry of primary European Public immunodeficiencies ESNEK - Rare paediatric neurological National Public disease registry Germany EU-RHAB: European Rhabdoid Tumor European Private not-for-profit Registry EuCalNet: International Calciphylaxis European Private for profit Registry eurIPFreg: European idiopathic pulmonary European Public fibrosis registry EUROFA - EFACT: European Friedreich European Public Ataxia Registry European Alport registry European Public European chILD-registry and biobank of the European network for children's interstitial European Public lung diseases (chILD-EU). European registry of sporadic degenerative European Public ataxia with adult onset EUROSCA-R: European patient registry on European Public spinocerebellar

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 21 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

EXCITING Registry: Registry for Exploring Clinical and Epidemiological Characteristics National Public of Interstitial Lung Diseases Fabry Disease Registry -DE National Private for profit

FACE - National registry for Robin sequence National Public FungiScope - Global Rare Fungal International Public Registry GEKID: Association of the epidemiologic National Public cancer registries GeNeMove: German database for Wilson National Public disease German acromegaly registry National Private for profit

German adrenal tumors registry National Public German AID (Autoinflammatory disorders) National Public registry - subproject AID-NET German alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) German calciphylaxis registry -contributes to the international calciphylaxis registry National Private for profit EuCalNet German central registry for Sickle cell National Public disease German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer National Public Information System, Member of IACR and ENCR) German CMT-patient registry germany - part National Public of the TREAT-NMD network German cystic fibrosis registry - contributes National Private not-for-profit to the EUROCARE CF registry German DM registry: Patient registry for National Public myotonic dystrophy (DM) German DMD- and SMA-patient registry : Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient National Public registries in Austria and Germany - part of the TREAT-NMD network German epilepsy registry National Public

German Fanconi anemia registry National Private not-for-profit German FKRP-patient registry - part of the National Public TREAT-NMD network German FSHD registry: Patient registry for National Public Facioscapulohumeral dystrophy (FSHD) German gastrointestinal stromal tumor National Public registry German Registry (DHR) National Public German IBM registry: Patient registry for National Public aquired or sporadic inclusion body myositis German marginal zone lymphoma registry National Private not-for-profit German mucopolysaccharidosis patient National Public registry German multiple endocrine neoplasia type 1 National Public (MEN 1) registry German national case collection of familial National Private not-for-profit pancreatic cancer

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 22 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

German PAM/MFM registry: Patient registry for hereditary protein aggregate National Public (PAM) / myofibrillar myopathies (MFM) German paroxysmal nocturnal National Public hemoglobinuria registry German patient registry HLH National Public (hemophagocytic lymphohistiocytosis) German pituitary tumors registry National Public German registry for congenital heart defects - part of the competence network for National Public congenital heart defects German registry for congenital National Public thrombocytopenia German Registry for Incidental Gallbladder National Private not-for-profit Carcinoma German registry for Langerhans Cell Histiocytosis in childhood (LCH-REG-DE National Public 2013) German registry for Morbus Adamantiades- National Public Behçet e.V. German registry for neonates, , children, adolescents, and adults with newly diagnosed and/or relapsed neuroblastic National Public tumors (NB Registry 2016) - partner of the INRG Database German registry for papulosis atrophicans National Public maligna German severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) Germany patient registry for National Public membranoproliferative glomerulonephritis GeVas: German Vasculitis Registry National Public GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or related National Public diseases GPOH-MET Registry: Registry for children and adolescents with malignant endocrine National Private not-for-profit tumour GPOH-registry sickle cell disease National Private not-for-profit

Hamburg cancer registry National Public HepNet: German hepatocellular carcinoma National Public (HCC) registry Hunter Outcome Survey (HOS): patient National Private for profit registry - DE INSIGHTS-IPF Investigating Significant Health Trends in Idiopathic Pulmonary National Public Fibrosis iNTD (International Working Group on Neurotransmitter Related Disorders) International Private not-for-profit Registry iNTD Network - International Working Group International Private not-for-profit on Neurotransmitter Related Disorders International Collaborative Gaucher Group National Private for profit (ICGG) Gaucher Registry - DE International registry for Primary Ciliary International Public Dyskinesia INVM (Isolated Noncompaction of National Public Ventricular Myocardium) registry Kids Lung Register: International register International Public and biobank for rare lung diseases Orphanet Report Series - Rare Disease Registries in Europe - September 2020 23 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

KINDLERNET: Central patient registry International Public Kindler syndrome LBL Registry: Registry for children with National Public lymphoblastic lymphoma Lupus nephritis registry (established by the National Public german paediatric association) Mainz registry of congenital anomalies - Regional Public contributes to the EUROCAT network MAISTHRO-Registry : multicentric thrombophilia registry (MAIn-ISar- National Public THROmbose-Register) MCR - Munich Cancer Registry Regional Public MDS Registry: German myelodysplastic National Public syndromes patient registry mitoREGISTRY: Registry for patients with mitochondrial diseases - subproject of National Public mitoNET Mucopolysaccharidosis type 1 (MPS I) National Private for profit Registry - DE Mykke : German registry for children and National Public adolescents with myocarditis National Cancer-predisposing syndrome National Public registry National database for echinococcosis National Public

National MRKH patient registry National Public National nephrogenic systemic fibrosis National Public registry National patient registry rare histiocytic disorders - part of the International Rare National Public Histiocytic Disorders Registry (IRHDR) National registry for Blackfan-Diamond National Public disease National Registry for Mycotic keratitis National Public

National registry for retroperitoneal fibrosis National Private not-for-profit NCL-Registry: International neuronal ceroid International Private for profit lipofuscinoses patient registry NeoExNET registry: patient registry for National Public neuroendocrine tumors Nephronophthisis registry for patients in International Private for profit Germany, Austria and Switzerland NET-Registry: German neuroendocrine National Private for profit gastrointestinal tumors Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular National Public diseases Neuromyelitis optica patient registry National Public Neutropenia biobank - contributes to the National Public SCN international registry (SCNIR) NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of International Public Non-Hodgkin Lymphoma diagnosed in children and adolescents NIRK: national central registry for ichthyoses National Public and related keratinization disorders NKR: German registry for adrenocortical National Private not-for-profit carcinoma NPC-2016 - A multicenter registry for nasopharyngeal cancer in children, National Private not-for-profit adolescents and young adults

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 24 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

OSTEOPETR: International registry of International Public patients suffering from osteopetrosis Patient registry for primary hyperoxaluria - National Public contributes to the OxalEurope-Network Patient registry for retinal degeneration PRO National Private not-for-profit RETINA e.V Patient registry of the German Network for National Private not-for-profit Systemic Scleroderma PID-NET: German National Registry for Primary Immunodeficiencies (PID) - partner National Public of the ESID registry PODONET: Registry for Steroid-Resistant International Public Nephrotic Syndrome (SRNS) patients Pompe Disease Registry - DE National Private for profit PROGNOSIS : The Prospective German Non-CF-Bronchiectasis Registry - European Public contributes to EMBARC registry PSHN Registry - Purpura Schoenlein- Henoch-Nephritis registry of the German National Public society for paediatric nephrology (GPN) RAMEDIS : Rare Metabolic Diseases National Public Database RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to International Public drugs and collection of biological samples - patient registry Register for rare myeloproliferative International Public neoplasms Registry and biobank for rare thyroid and National Public parathyroid carcinoma Registry for C3 Glomerulopathy and National Public Immune complex-mediated MPGN Registry for congenital melanocytic nevi and National Public neurocutaneous melanocytosis Registry for Merkel Cell Carcinoma National Public Registry for Patients with WT1 Mutation National Private not-for-profit Associated Diseases RetDis Database: clinical descriptions of patients and families with inherited eye International Public diseases Schleswig-Holstein cancer registry National Public SCNIR: Severe Chronic Neutropenia International Public International Registry STEP Registry: Registry for rare tumors in National Private not-for-profit children and adolescents STER: FVII deficiency treatment International Public international registry TIRCON: NBIA (Neurodegeneration with International Public Brain Iron Accumulation) patient registry Tumor Registry of Lymphatic Neoplasia (TNL-Registry): Epidemiological registry describing treatment reality and therapy modalities of patients with malignant National Public Lymphatic Systemic Diseases (Non- Hodgkin`s Lymphoma, Chronic Lymphocytic Leukemia and Multiple Myeloma) requiring therapy

DK - Denmark (5 registries)

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 25 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Danish cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Danish malignant hyperthermia registry - contributes to the European Malignant National Public Hyperthermia Group (EMHG) Funen county registry of congenital anomalies - contributes to the EUROCAT Regional Public network Mendelian network online National Public database Nordic Database for Rare Diseases National Public

EE - Estonia (3 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Estonian cancer registry National Public Estonian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare National Public diabetes syndromes - contribuiting to EURO-WABB

ES - Spain (64 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT ADPKD registry: Spanish registry for autosomal dominant polycystic kidney National Private not-for-profit disease aHUS/C3G: Atypical Hemolytic Uremic Syndrome (aHUS) and C3 Glomerulopathy National Public (C3G) Database EARCO Registry (Spanish contact point) National Public ECEMC: Registry of the Spanish Collaborative Study of Congenital National Public Malformations Epidemiologic Registry of Patients Diagnosed With - National Private not-for-profit ES ERCUSYN: European registry on Cushing's European Public syndrome ERN [EuroBloodNet] - ENROL: European European Public Rare Blood Disorders Platform ERN [TRANSPLANT-CHILD] - PETER: PaEdiatric Transplantation European European Public Registry EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom National Public Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES EUROMAC: Registry of patients affected by European Public McArdle Disease MYO-SPAIN Platform: Patient registry on National Private for profit idiopathic inflammatory myopathy in Spain NMD-ES: Amyotrophic Lateral Sclerosis National Public Registry Orphanet Report Series - Rare Disease Registries in Europe - September 2020 26 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

NMD-ES: Congenital Myasthenic Syndrome National Public Registry NMD-ES: Hereditary Neuropathies Registry National Public

NMD-ES: Inclusion Body Myositis Registry National Public NMD-ES: Inflammatory Neuropathies National Public Registry NMD-ES: Mitochondrial Diseases Registry National Public

NMD-ES: Myasthenia Gravis Registry National Public NMD-ES: Myopathies and Muscular National Public Dystrophies Registry NMD-ES: Myopathies due to collagen National Public deficiency VI Registry NMD-ES: Pompe Disease Registry National Public NMD-ES: Spanish Registry of National Public Neuromuscular Diseases PanGen-FAM: Spanish registry of hereditary National Public pancreatic cancer Population registry of rare diseases and Regional Public congenital anomalies of Cantabria (Spain) Population registry of rare diseases of Regional Public Balearic Islands (Spain) Population registry of rare diseases of Regional Public Navarra (Spain) RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to Regional Public the EUROCAT network Rare disease registry of Aragon (Spain) Regional Public REDAPED: Spanish registry of ataxias and National Public degenerative spastic paraparesis REDIP: Spanish registry of primary immunodeficiencies - contributes to the National Public ESID European registry REEG: Spanish Gaucher's disease registry National Public ReeR: Spanish National Registry of Rare National Public Diseases REeRIGG4: Spanish IgG4-related Disease National Private not-for-profit Registry Registro MEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas National Private for profit and paragangliomas Registry for rare diseases in Andalusia Regional Public (Spain) Registry for rare diseases in Extremadura Regional Public (Spain) REHAP: Spanish Registry of Pulmonary National Private for profit Arterial Hypertension REHem-AR-SEHOP: Spanish Registry of and Rare National Public from the Spanish Society of Paediatric Haematology and REHEVASC: Spanish registry for hepatic National Private not-for-profit vascular diseases REHIPED - Spanish Registry for Pediatric National Public RenalTube: Database of patients with International Public primary tubulopathies REPA: Spanish registry of alveolar National Public proteinosis

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 27 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

RERGA: Registry for rare diseases in Regional Public Galicia (Spain) RETEGEP: Spanish Registry of Gastroenteropancreatic Neuroendocrine National Private for profit Tumors REWBA: Spanish Registry of Wolfram, National Public Bardet-Biedl and Alstrom syndromes SIER-CV: Information System on rare Regional Public diseases in Valencian Community (Spain) SIERMA: Information system on rare Regional Public diseases in Madrid (Spain) SIERrm: Information System on rare Regional Public diseases in the Region of Murcia (Spain) SIOPE Diffuse Intrinsic Pontine Glioma National Private not-for-profit (DIPG) Registry (Spanish contact point) SpainRDR: Spanish Rare Disease Registries Research Network (patient National Public registries) Spanish alpha-1 antitrypsin deficiency registry (REDAAT) - contributes to the Alpha National Public One International Registry (AIR) Spanish Overgrowth Syndrome Registry National Public Spanish patient registry for spinal muscular National Public atrophy - part of the TREAT-NMD network Spanish patient registry of ataxias National Public Spanish patient registry of hereditary retinal National Public dystrophy Spanish patient registry of myelodysplasic National Public syndromes Spanish patient registry of transmissible National Public spongiform Spanish Registry of Cushing Syndrome - National Private for profit contributes to ERCUSYN Spanish registry of Duchenne muscular National Public dystrophy - part of the TREAT-NMD network Spanish Registry of Patients with Fanconi National Public Anemia Spanish registry of patients with McArdle National Public disease Spanish registry of pulmonary Langerhans National Public cell histiocytosis Spanish Rheumatology Society Lupus National Private not-for-profit Registry Spanish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

FI - Finland (7 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Finnish cancer registry - contributes to the National Public RARECARE project Finnish IPF registry National Public Finnish patient registry on Fabry disease - contributing to the international Fabry National Public registry and Shire registry Finnish TREAT-NMD Patient Registry National Public

Register of Congenital Malformations National Public

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 28 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

The Finnish Registry and National Public Clinical Biobank (FHRB Biobank) The Finnish Register of Visual Impairment, National Public Näkövammarekisteri

FR - France (150 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Aquitaine registry of mesothelioma Regional Public Auvergne registry of congenital anomalies - Regional Public contributes to the EUROCAT network Basse Normandie registry of hematological Regional Public malignancies BLAU registry: French pediatric National Public granulomatous arthritis registry Breast and other gynecological Regional Public registry of Côte-d'Or CEREDIH: French primary National Public immunodeficiencies registry Cloud-R HAE Register Hereditary European Public Angiodema Cobra: COhort Angioedema Berinert National Public CoF-AT study: a French cohort on ataxia- National Private not-for-profit telangiectasia Cohort of patients with hereditary National Public dystrophies of retina Cohorte française de patients atteints de National Private not-for-profit mucoviscidose et cohorte CFTR-RD Côte d'Or registry of hematological Regional Public malignancies D[4]/Phenodent: French registry of patients National Public affected by rare odontologic diseases Digestive Tumor Registry of Finistère Regional Public DM Scope: Myotonic dystrophy patient registry in France - part of the TREAT-NMD National Private not-for-profit network Duchenne and Becker muscular dystrophy patient registry in France - part of the National Public TREAT-NMD network EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related National Public neurological disorders EDMUS: European Database for Multiple European Public Sclerosis and other related diseases ENETS Registry: European Neuro- European Public Endocrine Tumors Group EPIMAD: registry of chronic inflammatory Regional Public intestine diseases in North-West ERN [EURO-NMD] - EURO-NMD Registry: Patient centered and interoperable registry European Public hub for Rare Neuromuscular Diseases ERN [EYE] - REDgistry: An interoperable sustainable European Rare Eye Disease European Public Registry ERN [ITHACA] - ILIAD Rare Diseases patient registry: an International Library of European Public Intellectual disability and Anomalies of Development

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 29 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ERN [PAEDCAN] - PARTNER: Paediatric Rare Tumours Networks - European European Public Registry ERN [Skin] - ERN-Skin REGISTRY: Interoperable ERN on Rare and European Public Undiagnosed Skin Disorders ERN [VASCERN] - VASCERN Registries European Public Escort-Hu: European sickle cell disease European Public cohort- hydroxyurea Establishment of children and adolescents National Public cohort in Behcet disease in France EU-CHS: European central hypoventilation European Public syndrome registry EURECHINOREG: European registry of European Public alveolar echinococcosis EurêClark registry (The European European Public Clarkson's syndrome registry) European LeukoDataBase European Public European prospective registry of children born to mothers affected by the European Public antiphospholipids syndrome European Society for Blood and Marrow European Public Transplant Society Registry (EBMT registry) EURORETT: European network on Rett European Public syndrome (registry) FranceCoag: French prospective cohort of patients affected with haemophilia or severe National Public form of other hereditary hemorrhagic diseases except platelet disorders Franco-Canadian program for the surveillance and pharmacoepidemiological evaluation of risk factors for rare diseases International Public (PGRx) : Immune (ITP) Franco-Canadian program for the surveillance and pharmacoepidemiological International Public evaluation of risk factors for rare diseases (PGRx) : Lupus Franco-Canadian program for the surveillance and pharmacoepidemiological International Public evaluation of risk factors for rare diseases (PGRx) : Myositis French acromegaly registry National Private not-for-profit

French addictive acute intoxications cohort National Public French atypical sarcoïdosis clinical forms National Public registry French auto- and (AIR) registry: prospective study of patients National Public treated with Rituximab French case registry for IgG4-related National Private for profit disease French central hypoventilation syndrome registry - will contribute to the European National Public CHS registry French certified patient registry for National Public Langerhans cell histiocytosis French certified registry of glycogen storage National Private for profit disease type 2 French certified registry of patients affected National Public by Gaucher disease

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 30 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

French certified registry of patients affected National Public by thalassemia French cohort creation in retinitis National Public pigmentosa French cohort for auto-inflammatory National Public diseases French cohort in primary ciliary dyskinesia National Public French cohort of acquired autoimmune National Public haemolytic anemia French cohort of common variable immunodeficiency with National Public in adults (CVID) French cohort of focal dystonia famillies National Public French cohort of idiopathic pulmonary National Public fibrosis French cohort of inflammatory bowel National Public disease (IBD) French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and National Public syndromic forms) French cohort of rhombencephalosynapsis National Public

French cohort of Usher syndrome National Public French Cohorts in Sneddon syndrome and National Public suspected Sneddon syndrome livedo French constitutive hematologic diseases National Public registry French cystic fibrosis patient registry National Private not-for-profit

French cystinosis registry National Public French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl National Public syndrome and other rare diabetes syndromes - contributes to EURO-WABB French epidemiological registry of National Public esophageal atresia French familial cardiac malformations National Public registry French National FSHD Registry National Private not-for-profit French National Lymphangioleiomyomatosis National Private not-for-profit Registry (RE-LAM-CE) French national patient registry on rare National Private not-for-profit peritoneal tumor RENAPE French National Registry for Rare Diseases National Public (BNDMR) French observatory of biliary atresia National Public

French observatory of gastric linitis plastica National Public French observatory of primary biliary National Public cirrhosis French observatory of primitive sclerosing National Public cholangitis French patient registry affected by genetic National Public deafness in France French patient registry in chorioretinopathy, National Public birdshot type French prospective cohort follow-up of children under the age of 18 with National Public autoimmune cytopenia

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 31 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

French Register of Amyotrophic Lateral National Public Sclerosis French register of the SDH-related National Public hereditary paraglioma French registry for macrophagic myofasciitis National Public French registry for right arrythmogenic National Public ventricular dysplasia (ARVC/D) French Registry of Atypical Hemolytic National Private not-for-profit Uremic Syndrome (aHUS) in Children French registry of child hematological National Public malignancies French registry of familial and premature National Public prostate cancers (before 50 years) French registry of generalized resistance to National Public thyroid hormone French registry of hereditary dyslipidemia in National Public children: familial combined French registry of genetic rare National Public diseases, non-related to the HFE French registry of Kabuki syndrome National Public French registry of Marshall's syndrome with National Public periodic fever French registry of neuromuscular diseases National Public from reference centres French registry of patients affect by Leber amaurosis and retinitis pigmentosa to National Public assess the clinical trial in French registry of rare genetic metabolism disorders of steroids - contributing to the National Public international RGSDC registry French registry of rare hypersomnias National Public French registry of rare pulmonary National Public hypertension (HTAP) French registry of tetrahydrobiopterin National Public deficiencies French severe chronic neutropenia certified patient registry - contributes to the SCN National Public international registry (SCNIR) French sickle cell anemia registry National Public French West Indies registry of congenital anomalies - contributes to the EUROCAT Regional Public network FROG: FRench Observatory on Gaucher National Public disease GENEPSO: French BRCA1 and 2 carrier National Private not-for-profit cohort study Gironde registry of hematological Regional Public malignancies GMF: French registry of myelodysplastic syndromes and leukemia chemo- and radio- National Private for profit induced GTE: French registry of endocrine tumors National Public Idiopathic pulmonary fibrosis: Cohort studies for evaluation of pronostic factors, National Public therapeutic evaluation ITINERAIR-HTAP: French cohort of adult National Public with pulmonary arterial hypertension ITINERAIR-pediatrie: French cohort of children with pulmonary arterial National Public hypertension Orphanet Report Series - Rare Disease Registries in Europe - September 2020 32 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ITINERAIR-scleroderma: French pulmonary arterial hypertension screening cohort of National Public patients with scleroderma KAWA-NET: KAWASAKI disease registry National Public La Réunion Fench Island registry of congenital anomalies - contributes to the Regional Public EUROCAT network Laminopathies and emerinopathies patient National Public registry LEA - Multicentric prospective cohort of children and adolescents malignant National Public hemopathies Leukofrance database and biobank National Public

Marne-Ardennes thyroid cancer registry Regional Public Mesothelioma cohort in Seine Saint-Denis Regional Public and Val de Marne Motor Function Measure database National Public (Neuromuscular Diseases) Multicenter national registry of pleural National Public mesothelioma (qualified register) National database for the study and follow- National Public up of paediatric rare tumors National registry of children solid tumors National Public Paris registry of congenital anomalies - Regional Public contributes to the EUROCAT network PHA1-NET: PseudoHypoAldosteronism type National Public 1 cohort POLA: French patient registry of high level National Public oligodendroglioma Primary central nervous system tumors Regional Public registry of Gironde RaDiCo-AC-OEIL: National cohort on congenital defects of the eye : natural history, genetic determinisms and improved National Public ocular and extra-ocular outcome prediction for better patient management RaDiCo-ACOSTILL: National cohort on adult National Public and childhood onset Still disease RaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström National Public syndrome RaDiCo-COLPAC: National cohort on the epidemiology, clinical and genetic National Public heterogeneity of Low Phospholipid- Associated Cholelithiasis (LPAC) syndrome RaDiCo-DCP: National cohort on Primary Ciliary Dyskinesia (PCD) : Identification of National Public specific severity criteria and phenotype- genotype correlation study RaDiCo-ECYSCO: European cystinosis European Public cohort RaDiCo-EURBIO-Alport: Study of the natural history of Alport Syndrome by European Public establishment of an international database RaDiCo-FARD: National cohort for the evaluation of individual burden in the course National Public of rare skin diseases RaDiCo-GenIDA: International social network for data collection on the natural International Public history of rare monogenic forms of intellectual disabilities

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 33 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their European Public metabolic consequences RaDiCo-MARFAN: National cohort on National Public Marfan syndrome and apparent diseases RaDiCo-MPS: National cohort on Mucopolysaccharidosis in the era of specific National Public therapeutics RaDiCo-PID: National cohort on Idiopathic National Public Interstitial Pneumonia from infancy to elderly RaDiCo-PP: National cohort on periodic paralysis : clinical, genetic and medico- National Public economic studies involving m-health monitoring tools RaDiCo-RETICO: National cohort on National Public inherited retinal dystrophies RaDiCo-SED-VASC: National cohort on National Public vascular Ehlers-Danlos syndrome Regional registry of thyroid cancers in Regional Public Rhône-Alpes Registry for digestive cancers in Burgundy Regional Public Registry for Patients with Digital Ulcers Associated with Systemic Sclerosis International Public (DU/SSc) Registry of digestive tumors in Calvados Regional Public Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare Regional Public forms non-HFE hemochromatosis) Registry of the network studying thrombotic National Public microangiopathies Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT Regional Public network SCETIDE - Stem CEll Transplant for primary European Public Immune Deficiencies in Europe SYRENE: Rett syndrome network - French database of clinical and genetic aspects of National Public Rett syndrome The global aHUS Registry National Private for profit VALDIG: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, International Public hepatoportal sclerosis and portal vein thrombosis

GB - United Kingdom of Great Britain and Northern Ireland (the) (76 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Ataxia-Telangiectasia International Registry International Public (A-T Society) Neuronal Ceroid National Public Lipofuscinosis (NCL) Patient Registry BPOLD: British Paediatric Orphan Lung National Public Disease Registry CCRN 1055: Osteonecrosis of the Jaw International Private for profit (ONJ) Case Registry CCRN 1076: A multi-centre safety registry for malaria patients treated with National Private for profit EurartesimTM CCRN 2421 (Noonan/RASopathy patients): International Public A registry study to characterize genetic and

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 34 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf pathway biomarkers in Noonan syndrome and other RASopathy patients - UK CCRN 2536 (Idiopathic pulmonary fibrosis): Post-Authorisation Safety Study of Esbriet® (Pirfenidone): A Prospective Observational National Private for profit Registry to Evaluate Long-Term Safety in a Real-World Setting CCRN 3119 (Spondyloarthritis): Patients with axial spondyloarthritis: multicountry registry of clinical characteristics, including International Private for profit radiographic progression, and burden of disease over 5 years in reallife setting CCRN 995 (European Adrenal Insufficiency): A European multi-centre, multi-country, post-authorisation, European Private for profit observational study (registry) of patients with chronic adrenal insufficiency - UK CRANE: Cleft Registry and Audit Network - National Public England, Wales & Northern Ireland DRN 377: Clinical Register for Transient National Private not-for-profit Neonatal Diabetes EBV associated NK/ malignancies National Private not-for-profit registry ECARUCA: European Cytogeneticists Association Register of Unbalanced European Public Chromosome Aberrations ECFS: European Cystic Fibrosis Society European Public patient registry EHDN: registry of juvenile Huntington's International Private not-for-profit disease EHR: European Haemoglobinopathy European Public Registry EIMD: European registry and network for National Public intoxication type metabolic diseases ERN [Endo-ERN] - EuRRECa: European European Public Registries for Rare Endocrine Conditions English alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) English cystic fibrosis database National Public English cystic fibrosis patient registry - contributes to the EUROCARE CF and National Public ECFS registries English patient National Public registry - part of the HAE European registry English registry for National Public lymphangioleiomyomatosis English severe chronic neutropenia registry - contributes to the SCN international registry National Public (SCNIR) ERNEST - European Registry for Myeloproliferative Neoplasms towards a European Private for profit better understanding of Epidemiology, Survival and Treatment EUMDS: European Registry for Myelodysplastic Syndromes - part of European Public EuroLeukemiaNet (ELN) EURO-WABB: An EU Rare Diseases Registry for Wolfram syndrome, Alström European Public syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes EURO-WABB: An EU Rare Diseases National Public Registry for Wolfram Syndrome, Alstrom

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 35 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK EUROCARE CF: European cystic fibrosis International Public registry EUROCAT: European surveillance of European Public congenital anomalies EURODSD: European disorders of sexual European Public development registry EuroMyositis registry European Public EUROPAC: the European registry of hereditary pancreatitis and familial European Public pancreatic cancer European Prader-Willi syndrome database European Public EUROWILSON: European network on European Public Wilson disease (registries) Familial Ovarian Cancer Register (FOCR) National Public

Family History of Bowel Cancer Registry National Public Global FKRP registry (Global Fukutin- Related Protein defects registry) - Part of International Public TREAT-NMD Alliance Great Ormond Street Hospital Congenital National Public Melanocytic Naevus Registry I-DSD: International Disorders of Sex International Public Development registry International A-T Registry International Public International Niemann-Pick Disease International Public Registry MCRN078 (E2080-E044-401): European Registry of Anti-Epileptic Drug Use in National Private for profit Patients with Lennox-Gastaut Syndrome - UK Myotonic dystrophy patient registry in United National Public Kingdom - part of the TREAT-NMD network National Congenital Anomaly and Rare National Public Disease Registration Service (NCARDRS) National haemophilia database (NHD) National Public

NHR: National Haemoglobinopathy Registry National Public

North Star database National Public Registry for Patients with Niemann-Pick International Public Type C Disease The Global aHUS Registry National Private for profit The Global Registry for COL6-related International Public dystrophies The International GNE Myopathy Registry - Hereditary Inclusion Body Myopathy- Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective National Public Observational Natural History Study to Assess HIBM Disease (part of the TREAT- NMD network) - UK The MTM and CNM Registry - The Myotubular and International Public Patient Registry The National Chronic Granulomatous National Public Disease Registry The UK Paediatric ITP Registry National Public

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 36 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

TREAT-NMD: Accelerating Treatments for International Public Neuromuscular Diseases (registries) TuberOus SClerosis registry to increase International Private for profit disease Awareness (TOSCA) UK & Ireland Fanconi Anaemia Registry National Public UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of National Public the TREAT-NMD network) UK and Ireland Juvenile Dermatomyositis National Public Cohort Biomarker Study and Repository UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT- National Public NMD network) UK and Ireland Vasculitis registry (UKIVAS) National Public UK facioscapulohumeral muscular dystrophy patient registry (part of the TREAT-NMD National Public network) UK Huntington disease registry (collaborating with the EHDN/Euro HD National Public Registry) UK mucopolysaccharidosis registry National Public UK Myotonic dystrophy type I patient National Public registry (part of the TREAT-NMD network) UK national Acromegaly patient register National Public UK Paediatric ITP (Immune National Public Thrombocytopenic Purpura) Registry UK Registry for Central Hypoventilation National Public Syndrome (CHS) UK Renal Rare Disease Registry (RaDaR) - National Public Part of OXAL Europe UK Thrombotic Thrombocytopenia Purpura National Public (UKTTP) Registry UKAITPR: United Kingdom adult idiopathic National Private for profit thrombocytopenic purpura registry UKESR: United Kingdom Evans Syndrome National Private for profit Registry UKFITPR: United Kingdom familial idiopathic thrombocytopenic purpura (ITP) National Private for profit Registry United Kingdom neuromyelitis optica registry National Public United Kingdom Primary Sjogren's National Public Syndrome Registry

GR - Greece (3 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Greek cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Greek severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR) National Registry for Haemoglobinopathies National Private not-for-profit in Greece (NRHG)

HR - Croatia (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 37 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Croatian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Registry for neuromuscular disease National Public

HU - Hungary (5 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT DMD registry - Hungary - contributes to the National Public TREAT-NMD network Hungarian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Hungarian severe chronic neutropenia registry - contributes to the SCN National Public international registry (SCNIR) National NF Register National Public SMA registry Hungary - contributes to the National Public TREAT-NMD network

IE - Ireland (17 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT CFRI: The Cystic Fibrosis Registry of Ireland National Public - contributes to the EUROCARE CF registry Dublin registry of congenital anomalies - Regional Public contributes to the EUROCAT network Hunter Outcome Survey (HOS): patient National Private for profit registry Irish ENS@T Biobank and Registry - National Public contributes to ENS@T registry Irish Galactosemia Registry - contributes to National Public European Galactosemia Patient Registry Irish Registry for homocystinurias and National Public methylation defects - contributes to E-HOD Irish registry of amyotrophic lateral sclerosis and motor neurone disease - contributes to National Public Euro-MOTOR Irish severe chronic neutropenia registry - contributes to the SCN international registry National Public (SCNIR) National Alpha-1 Antitrypsin Deficiency Registry - contributes to the Alpha One National Public International Registry (AIR) National Cleft Database - contributes to National Public EUROCAT National Haemophilia Register - Ireland National Public National Severe Immunodeficiency Registry National Public - contributes to ESID registry South East of Ireland registry of congenital anomalies - part of BINOCAR and Regional Public EUROCAT network South of Ireland registry of congenital anomalies - contributes to the EUROCAT Regional Public network Sudden Cardiac Death in the Young National Private not-for-profit Registry The Irish Rare Kidney Disease Registry and National Public Biobank

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 38 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

UKIVAS - UK and Ireland registry of National Public autoimmune vasculitides

IL - Israel (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Israeli cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Israelian severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

IS - Iceland (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Icelander cancer registry - contributes to the National Public RARECARE project Icelander cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

IT - Italy (89 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT AICE: Italian registry of hemophilia centre National Public

Angelman Syndrome Italian Registry (RISA) National Private not-for-profit Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical registry National Public and database, evaluation of therapies Behçet's disease registry National Private not-for-profit Campania registry of congenital anomalies - Regional Public contributes to the EUROCAT network Congenital Malformations Registry Regional Public

DMD / BMD Italy Patient Registry National Public Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient National Public registries in Italy - contributes to the TREAT- NMD network EIMD: European registry and network for National Public intoxication type metabolic diseases ERN [EURACAN] - STARTER: STarting an European Public Adult Rare Tumor European Registry ERN [ReCONNET] - TogethERN ReCONNET: a European Registry Infrastructure for data harmonization in rare European Public and complex and musculoskeletal diseases ERN [RITA] - MERITA: A METADATA European Public REGISTRY FOR THE ERN RITA EUROFEVER: European registry for European Public autoinflammatory diseases EUROWILSON: Registry and network to National Public improve the management of Wilson Disease FMF: Italian registry for familial National Public mediterranean fever in the young Friedreich's ataxia Italian patient registry National Public

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 39 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

GLATIT: Glanzmann thrombasthenia Italian National Public registry GLUT1 deficiency syndrome registry National Private not-for-profit HAE-registry: European hereditary European Public angioedema patient registry IBAHC: Italian registry for alternating National Public hemiplegia of childhood INNCB MG Registry National Public International registry of bone fragility International Public fractures in the young International Registry of congenital International Public dyserythropoietic anemia II International Registry of Rare Bleeding International Public Disorders (RBDD) International registry of recurrent and familial hemolytic uremic syndrome/thrombotic International Private not-for-profit thrombocytopenic purpura IPERN: Registry of JIA patients treated with National Public anti-TNF ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT Regional Public network Italian Alpha-1 antitrypsin Deficiency registry - contributes to the Alpha One International National Public Registry (AIR) Italian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Italian HLH Registry - Hemophagocytic National Public lymphohistiocytosis Italian LCH Registry - Langerhans cell National Public histiocytosis Italian Li-Fraumeni syndrome registry National Public

Italian myelodysplastic syndromes registry National Public Italian Network MDS Registry National Private not-for-profit (FISM_registry) Italian neuroblastoma registry National Public

Italian register multiple endocrine neoplasia National Public Italian registry for MYH9-related National Public thrombocytopenia Italian Registry for patients with Shwachman National Private not-for-profit Diamond Syndrome Italian Registry of adult patients affected by National Public familial mediterranean fever Italian registry of Alport syndrome National Private not-for-profit Italian registry of Creutzfeldt-Jakob disease National Public and correlated syndromes Italian registry of Growth Hormone National Public

Italian registry of hemolytic uremic syndrome National Public Italian registry of hypertrophic National Public cardiomyopathy in Anderson-Fabry disease Italian Registry of and National Public hyperbilirubinemia Italian registry of Legionellosis National Public Italian Registry of membranoproliferative National Private not-for-profit glomerulonephritis

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 40 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Italian registry of muscular channelopathy National Public

Italian registry of myotonic dystrophies National Public Italian registry of patients and families National Public affected by Italian registry of skeletal dysplasia National Public

Italian retinoblastoma registry National Public

Lymphomas Database Regional Public MITOCON: National registry mitochondrial National Private not-for-profit disease MODY: Italian registry of maturity onset National Public diabetes of the young National registry of Rare Diseases National Public

North-east Italy registry of neurofibromatosis Regional Public North-East of Italy registry of congenital anomalies - contributes to the EUROCAT Regional Public network RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to National Private not-for-profit Treat-NMD european network Rare Diseases Registry - Veneto Region Regional Public Regional registry for neuromuscular Regional Private not-for-profit disorders Regional Registry Rare Diseases of Puglia Regional Public Region (SIMaRRP) Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other National Public rare diabetes syndromes - contributing to EURO-WABB Registry of inherited bleeding disorders in Regional Public Emilia Romagna region Registry of pregnant patients affected by National Public essential thrombocythemia Registry of steroid-resistant nephrotic National Private for profit syndrome REM: Multiple Osteochondromas Registry National Public RESIDRAS - National Registry of Dravet Syndrome and other Syndromes correlated National Private not-for-profit with on SCN1A and PCDH19 Rett Syndrome Database National Public

RIAF: Fanconi's Anemia Italian Registry National Private not-for-profit

RIAT: Ataxia teleangiectasia Italian registry National Public RIMM: Italian registry for myelofibrosis with National Public myeloid metaplasia Ring14 Clinical database International Public RIPID - Italian registry of diffuse infiltrative National Public pneumopathies RNIC: National Registry of patients with National Public Congenital Hypothyroidism ROI: Registry National Public SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN National Public international registry Sicilian Registry of Thalassemia and Regional Public Hemoglobinopathies (Re.S.T.E.) Orphanet Report Series - Rare Disease Registries in Europe - September 2020 41 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to National Private not-for-profit european Treat-NMD network Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - National Private not-for-profit contributes to european Treat-NMD network Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to National Private not-for-profit european Treat-NMD network The Global Registry of Hereditary International Private not-for-profit Angioedema Type I and II The Italian multi-region thalassaemia National Private not-for-profit registry The Italian Registry of Hereditary National Private not-for-profit Angioedema Transthyretin neuropathy (TTR- National Private not-for-profit FAP) italian registry TTP: International registry on thrombotic International Public thrombocytopenic purpura Tuscan Registry of Congenital Anomalies Regional Public

Tuscan Registry of Rare Diseases Regional Public V-RIAT: variant Ataxia telangiectasia Italian National Public registry

LT - Lithuania (1 registry) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Lithuanian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

LU - Luxembourg (1 registry) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Luxembourgers cystic fibrosis patient registry - contributes to the EUROCARE CF National Public registry

LV - Latvia (1 registry) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Latvian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

MK - Republic of North Macedonia (1 registry) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Macedonian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

MT - Malta (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to National Public EUROCAT

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 42 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Maltese cancer registry - contributes to the National Public RARECARE project

NL - Netherlands (the) (38 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT ALS database National Public CONCOR: Dutch registration of adult National Public patients with congenital heart disease DDRMD - Dutch Diagnosis Registration National Public Metabolic Diseases Diffuse Intrinsic Pontine Glioma (DIPG) European Private not-for-profit Registry Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of National Public the TREAT-NMD network Dutch alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International National Public Registry (AIR) Dutch CF Registry - contributes to the European Cystic Fibrosis Society Patient National Private not-for-profit Registry (ECFSPR) Dutch Neuromuscular Database CRAMP: Computer Registry of All Myopathies and National Private not-for-profit Polyneuropathies Dutch patient registry for Fabry disease National Public

Dutch patient registry for Gaucher disease National Public Dutch patient registry for Niemann-Pick National Public Disease Type B Dutch patient registry for Niemann-Pick National Public Disease Type C Dutch severe chronic neutropenia registry - contributes to the SCN international registry National Public (SCNIR) E-HOD - European network and registry for homocystinurias and methylation defects European Public (contributes to U-IMD) EPCOT: European prospective cohort on European Public thrombophilia ERN [BOND] - EuRR-Bone: European Registry for Rare Bone and Mineral European Public Conditions ERN [CRANIO] - ERN CRANIO registry European Public ERN [ERNICA] - ERNICA-registry for European Public improving care ERN [eUROGEN] - ERN eUROGEN European Public Registry for rare urogenital diseases ERN [GENTURIS] - GENTURIS registry: The ERN Genetic Tumour Risk Syndromes European Public Registry ERN [GUARD-Heart] - The Heart-Core Registry: a Gateway to Uncommon and European Public Rare Diseases of the Heart ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement European Public Therapy EUROCAT Northern Netherlands - contributes to the international EUROCAT Regional Public network

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 43 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

European Parathyroid Tumor Registry European Public

FSHD registry National Private not-for-profit Galactosemia Patient Registry - part of the International Public Galactosemia Network International Dystrophic Epidermolysis International Private not-for-profit Bullosa Patient Registry Membranous Nephropathy Registry International Public

PedNet Haemophilia Registry International Private not-for-profit PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in International Public childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network) RD5000 database: Dutch Registry for National Private not-for-profit Inherited Retinal Dystrophies Registry NXT - Genzyme's Rare Disease International Private for profit Registries STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Registry to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in National Public Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL The ALD Connect Patient Portal International Private not-for-profit

The Intenational Pompe registry International Private for profit The International Collaborative Gaucher International Private for profit Group (ICGG) Gaucher registry The International Fabry registry International Private for profit

The International Mps I registry International Private for profit

NO - Norway (7 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT EURADRENAL: pathophysiology and natural course of autoimmune adrenal European Public failure in Europe (registries) European Porphyria Registry (EPR) European Public HUE-MAN patient registry on alpha European Public mannosidosis Norvegian Porphyria Registry National Public Norwegian cancer registry - contributes to National Public the RARECARE project Norwegian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Norwegian severe chronic neutropenia registry - contributes to the SCN National Public international registry (SCNIR)

PL - Poland (10 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Cracow cancer registry - contributes to the Regional Public RARECARE project

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 44 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Kielce cancer registry - contributes to the Regional Public RARECARE project Mazovian Cancer Registry - contributes to Regional Public the RARECARE project Polish cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Polish Registry of Inherited Tubulopathies National Public (POLtube) Polish Registry of Patients with Neuromuscular Diseases contributes to the National Public TREAT-NMD network Polish registry of primary immunodeficiencies - contributes to the National Public ESID European registry Polish severe chronic neutropenia registry - contributes to the SCN international registry National Public (SCNIR) PRCM: Polish registry of congenital malformations - contributes to the National Public EUROCAT network Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other National Public rare diabetes syndromes contributing do EURO-WABB

PT - Portugal (16 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Açores regional cancer patient registry Regional Public (RORA) Adrenal tumor national registry National Public

Central regional cancer patient registry Regional Public Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to National Public the TREAT-NMD network North regional cancer registry (RORENO) Regional Public

Pituitary tumors national registry National Public Portuguese cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Portuguese Fabry patient registry - contributing to the international Fabry National Private for profit registry Portuguese registry for alpha-1 antitrypsin National Public deficiency Portuguese registry for bronchiectasis National Public Portuguese registry of primary National Public immunodeficiency diseases (REPORID) Portuguese Rett syndrome registry National Public Portuguese severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR) RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT National Public network) Southern Portugal cancer registry - Regional Public contributes to the RARECARE project Vila Nova de Gaia regional cancer registry Regional Public (ROG)

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 45 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

RO - Romania (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Romanian biliary atresia registry National Public Romanian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

RS - Serbia (4 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Serbian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Serbian registry of hemophilia and von National Public Willebrand disease patients Serbian registry of patients with rare bleeding disorders - contributes to the National Public RBDD international registry Serbian severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

SE - Sweden (18 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT EUROCRINE: European Surgical Registry European Public for Rare Endocrine Tumours FOS : Fabry Outcome Survey National Public

HOS : Hunter Outcome Survey National Public IOS : Icatibant Outcome Survey for International Public hereditory angioedema National registry on bronchopulmonary National Public dysplasia SPAHR: Swedish Pulmonary Arterial National Public Hypertension Registry SWEDCON: Swedish Registry of Congenital National Public Heart Disease Swedish Acute Lymphoblastic Leukemia National Public Registry Swedish Acute Myelogenous Leukemia National Public Registry Swedish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Swedish Childhood Cancer Registry National Private not-for-profit

Swedish Chronic Myeloid Leukemia Registry National Public Swedish cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Swedish Multiple Myeloma Registry National Public

Swedish Polyposis Registry National Public Swedish Registry for Familial Amyloid National Public Polyneuropathy

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 46 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Swedish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) SWEDROP: Swedish Registry for National Public Retinopathy of Prematurity

SI - Slovenia (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Slovenian cancer registry - contributes to the National Public RARECARE project Slovenian cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

SK - Slovakia (2 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT National cancer registry (contributes to the National Public RARECARE project) Slovak cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry

TR - Turkey (5 registries) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Database setup for the visualisation and examination of oral ulcers in Behcet disease National Public patients Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient National Public registries in Turkey - contributes to the TREAT-NMD network Turkish cystic fibrosis patient registry - National Public contributes to the EUROCARE CF registry Turkish pediatric atypical hemolytic uremic National Public syndrome registry Turkish severe chronic neutropenia registry - contributes to the SCN international registry National Public (SCNIR)

UA - Ukraine (1 registry) ENGLISH LABEL OF THE COVERAGE AFFILIATION REGISTRY/COHORT Spinal muscular atrophy patient registry in National Public Ukraine - part of the TREAT-NMD network

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 47 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

European registries

*In this table only heads of European registries are listed in order to avoid double-counting.

EUROPEAN REGISTRIES (84 registries)*

ENGLISH LABEL OF THE REGISTRY/COHORT COORDINATION AFFILIATION Central data registry of the European Competence AT Public Network on Mastocytosis (ECMN) Thromboreductin-Registry AT Private for profit ENETS: European Neuroendocrine Tumour BE Public Registry ERN [EpiCARE] - EPICARE-GRANT: An Operational EPICARE Registry for all Rare and BE Public Complex Epilepsies EUNEFRON: registry of the European network for BE Public the study of orphan nephropathies Juvenile Inflammatory Rheumatism Cohorte CH Private not-for-profit (JIRcohorte) CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and DE Public Austria CERTAIN-LI: Cooperative European Paediatric DE Private not-for-profit TransplAnt INitiative LIver CERTAIN: Cooperative European Paediatric DE Private not-for-profit Renal Transplant Initiative registry EBAR: European Biliary Atresia Registry DE Public ERN [ERKNet] - ERK-REG: ERKNet Registry for DE Public Rare Kidney Diseases ERN [ERN-LUNG] : REGISTRY WAREHOUSE - DE Public RD Registry Data Warehouse ERN [MetabERN] - UIMD: Unified European Registry for Inherited Metabolic DisordersUIMD: DE Public Unified European Registry for Inherited Metabolic Disorders ERN [RARE-LIVER] - R-LIVER: Registry for Rare Liver Diseases of the ERN on hepatological DE Public diseases ERN [RND] - ERN-RND Registry: The ERN-RND DE Public Rare Neurological Disease Registry ESID: European registry of primary DE Public immunodeficiencies EU-RHAB: European Rhabdoid Tumor Registry DE Public

EuCalNet: International Calciphylaxis Registry DE Private for profit eurIPFreg: European idiopathic pulmonary fibrosis DE Public registry EUROFA - EFACT: European Friedreich Ataxia DE Public Registry European Alport registry DE Public European chILD-registry and biobank of the european network for children's interstitial lung DE Public diseases (chILD-EU) European registry of sporadic degenerative ataxia DE Public with adult onset EUROSCA-R: European patient registry on DE Public spinocerebellar ataxias

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 48 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

PROGNOSIS : The Prospective German Non-CF- Bronchiectasis Registry - contributes to EMBARC DE Public registry ERCUSYN: European registry on Cushing's ES Public syndrome ERN [EuroBloodNet] - ENROL: European Rare ES Public Blood Disorders Platform ERN [TRANSPLANT-CHILD] - PETER: PaEdiatric ES Public Transplantation European Registry EUROMAC: Registry of patients affected by ES Public McArdle Disease Cloud-R HAE Register Hereditary Angiodema FR Public EDMUS: European Database for Multiple FR Public Sclerosis and other related diseases ENETS Registry: European Neuro-Endocrine FR Public Tumors Group ERN [EURO-NMD] - EURO-NMD Registry: Patient centered and interoperable registry hub for FR Public Rare Neuromuscular Diseases ERN [EYE] - REDgistry: An interoperable FR Public sustainable European Rare Eye Disease Registry ERN [ITHACA] - ILIAD Rare Diseases patient registry: an International Library of Intellectual FR Public disability and Anomalies of Development ERN [PAEDCAN] - PARTNER: Paediatric Rare IT Public Tumours Networks - European Registry ERN [Skin] - ERN-Skin REGISTRY: Interoperable FR Public ERN on Rare and Undiagnosed Skin Disorders ERN [VASCERN] - VASCERN Registries FR Public Escort-Hu: European sickle cell disease cohort- FR Public hydroxyurea EU-CHS: European central hypoventilation FR Public syndrome registry EURECHINOREG: European registry of alveolar FR Public echinococcosis EurêClark registry (The European Clarkson's FR Public syndrome registry) European LeukoDataBase FR Public European prospective registry of children born to mothers affected by the antiphospholipids FR Public syndrome European Society for Blood and Marrow FR Public Transplant Society Registry (EBMT registry) EURORETT: European network on Rett syndrome FR Public (registry) RaDiCo-ECYSCO: European cystinosis cohort FR Public RaDiCo-EURBIO-Alport: Study of the natural history of Alport Syndrome by establishment of an FR Public international database RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic FR Public consequences SCETIDE - Stem CEll Transplant for primary FR Public Immune Deficiencies in Europe CCRN 995 (European Adrenal Insufficiency): A European multi-centre, multi-country, post- GB Private for profit authorisation, observational study (registry) of patients with chronic adrenal insufficiency - UK ECARUCA: European Cytogeneticists Association GB Public Register of Unbalanced Chromosome Aberrations

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 49 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

ECFS: European Cystic Fibrosis Society patient GB Public registry EHR: European Haemoglobinopathy Registry GB Public ERN [Endo-ERN] - EuRRECa: European GB Public Registries for Rare Endocrine Conditions ERNEST - European Registry for Myeloproliferative Neoplasms towards a better GB Private for profit understanding of Epidemiology, Survival and Treatment EUMDS: European Registry for Myelodysplastic GB Public Syndromes - part of EuroLeukemiaNet (ELN) EURO-WABB: An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet- GB Public Biedl syndrome and other rare diabetes syndromes EUROCAT: European surveillance of congenital GB Public anomalies EURODSD: European disorders of sexual GB Public development registry EuroMyositis registry GB Public EUROPAC: the European registry of hereditary GB Public pancreatitis and familial pancreatic cancer European Prader-Willi syndrome database GB Public EUROWILSON: European network on Wilson GB Public disease (registries) ERN [EURACAN] - STARTER: STarting an Adult IT Public Rare Tumor European Registry ERN [ReCONNET] - TogethERN ReCONNET: a European Registry Infrastructure for data IT Public harmonization in rare and complex connective tissue and musculoskeletal diseases ERN [RITA] - MERITA: A METADATA REGISTRY IT Public FOR THE ERN RITA EUROFEVER: European registry for IT Public autoinflammatory diseases HAE-registry: European hereditary angioedema IT Public patient registry Diffuse Intrinsic Pontine Glioma (DIPG) Registry NL Private not-for-profit E-HOD - European network and registry for NL Public homocystinurias and methylation defects EPCOT: European prospective cohort on NL Public thrombophilia ERN [BOND] - EuRR-Bone: European Registry for NL Public Rare Bone and Mineral Conditions ERN [CRANIO] - ERN CRANIO registry NL Public ERN [ERNICA] - ERNICA-registry for improving NL Public care ERN [eUROGEN] - ERN eUROGEN Registry for NL Public rare urogenital diseases ERN [GENTURIS] - GENTURIS registry: The NL Public ERN Genetic Tumour Risk Syndromes Registry ERN [GUARD-Heart] - The Heart-Core Registry: a Gateway to Uncommon and Rare Diseases of the NL Public Heart ESPN/ERA-EDTA Registry: European Registry for NL Public Children on Renal Replacement Therapy European Parathyroid Tumor Registry NL Public

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 50 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

EURADRENAL: pathophysiology and natural course of autoimmune adrenal failure in Europe NO Public (registries) European Porphyria Registry (EPR) NO Public

HUE-MAN patient registry on alpha mannosidosis NO Public EUROCRINE: European Surgical Registry for SE Public Rare Endocrine Tumours

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 51 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

International registries coordinated in Europe

*In this table only heads of International registries are listed in order to avoid double-counting.

INTERNATIONAL REGISTRIES (77 registries)*

ENGLISH LABEL OF THE REGISTRY/COHORT COORDINATION AFFILIATION EMSA-SG: central patient registry of the AT Public European multiple system atrophy network ENRAH: European alternating hemiplegia and AT Public rare epilepsies registry in childhood International aHUS registry AT Public EUROGLYCANET - International patient registry and cohort for congenital disorders of BE Public glycosylation Pediatric granulomatous arthritis international BE Public registry COST Action BM1105 Patient Registry - GnRH CH Public Network Hereditary TTP Registry CH Public Intercontinental Cooperative ITP Study Group CH Public Registry Perihilar Cholangiocarcinoma International CH Public Registry PNH Registry: Paroxysmal Nocturnal CH Private for profit Hemoglobinuria registry ADPedKD - International, longitudinal registry including ADPKD patients followed up from DE Private not-for-profit childhood. ARegPKD - International Registry Study on DE Public Autosomal Recessive Polycystic Kidney Disease Blue cone monochromatism - Patient registry DE Private not-for-profit CPT-SIOP-Registry : International Registry for DE Private not-for-profit Choroid Plexus Tumors CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, DE Private not-for-profit adolescents, and young adults DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria DE Public and switzerland E-IMD : European registry and network for DE Public Intoxication type Metabolic Diseases EHDN: neuroacanthocytosis patient registry DE Public

Enroll-HD Registry DE Private not-for-profit FungiScope - Global Rare Fungal Infection DE Public Registry iNTD (International Working Group on DE Private not-for-profit Neurotransmitter Related Disorders) Registry iNTD Network - International Working Group on DE Private not-for-profit Neurotransmitter Related Disorders International registry for Primary Ciliary DE Public Dyskinesia Kids Lung Register: International register and DE Public biobank for rare lung diseases KINDLERNET: Central patient registry Kindler DE Public syndrome NCL-Registry: International neuronal ceroid DE Private for profit lipofuscinoses patient registry

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 52 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Nephronophthisis registry for patients in germany, DE Private for profit austria and switzerland NHL-BFM Registry 2012: Registry of the NHL- BFM study group for all subtypes of Non-Hodgkin DE Public Lymphoma diagnosed in children and adolescents OSTEOPETR: International registry of patients DE Public suffering from osteopetrosis PODONET: Registry for Steroid-Resistant DE Public Nephrotic Syndrome (SRNS) patients RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and DE Public collection of biological samples - patient registry Register for rare myeloproliferative neoplasms DE Public RetDis Database: clinical descriptions of patients DE Public and families with inherited eye diseases SCNIR: Severe Chronic Neutropenia International DE Public Registry STER: FVII deficiency treatment international DE Public registry TIRCON: NBIA (Neurodegeneration with Brain DE Public Iron Accumulation) patient registry RenalTube: Database of patients with primary ES Public tubulopathies Franco-Canadian program for the surveillance and pharmacoepidemiological evaluation of risk FR Public factors for rare diseases (PGRx) : Immune thrombocytopenic purpura (ITP) Franco-Canadian program for the surveillance and pharmacoepidemiological evaluation of risk FR Public factors for rare diseases (PGRx) : Lupus Franco-Canadian program for the surveillance and pharmacoepidemiological evaluation of risk FR Public factors for rare diseases (PGRx) : Myositis RaDiCo-GenIDA: International social network for data collection on the natural history of rare FR Public monogenic forms of intellectual disabilities Registry for Patients with Digital Ulcers FR Public Associated with Systemic Sclerosis (DU/SSc) VALDIG: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, FR Public hepatoportal sclerosis and portal vein thrombosis Ataxia-Telangiectasia Society GB Public CCRN 1055: Osteonecrosis of the Jaw (ONJ) GB Private for profit Case Registry CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway GB Public biomarkers in Noonan syndrome and other RASopathy patients - UK CCRN 3119 (Spondyloarthritis): Patients with axial spondyloarthritis: multicountry registry of clinical characteristics, including radiographic GB Private for profit progression, and burden of disease over 5 years in reallife setting EHDN: registry of juvenile Huntington's disease GB Private not-for-profit

EUROCARE CF: European cystic fibrosis registry GB Public Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD GB Public Alliance I-DSD: International Disorders of Sex GB Public Development registry

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 53 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

International A-T Registry GB Public

International Niemann-Pick Disease Registry GB Public Registry for Patients with Niemann-Pick Type C GB Public Disease The Global Registry for COL6-related dystrophies GB Public The MTM and CNM Registry - The Myotubular GB Public and Centronuclear Myopathy Patient Registry TREAT-NMD: Accelerating Treatments for GB Public Neuromuscular Diseases (registries) TuberOus SClerosis registry to increase disease GB Private for profit Awareness (TOSCA) International registry of bone fragility fractures in IT Public the young International Registry of congenital IT Public dyserythropoietic anemia II International Registry of Rare Bleeding Disorders IT Public (RBDD) International registry of recurrent and familial hemolytic uremic syndrome/thrombotic IT Private not-for-profit thrombocytopenic purpura Ring14 Clinical database IT Public The Global Registry of Hereditary Angioedema IT Private not-for-profit Type I and II TTP: International registry on thrombotic IT Public thrombocytopenic purpura Galactosemia Patient Registry - part of the NL Public Galactosemia Network International Dystrophic Epidermolysis Bullosa NL Private not-for-profit Patient Registry Membranous Nephropathy Registry NL Public

PedNet Haemophilia Registry NL Private not-for-profit PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in NL Public childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network) Registry NXT - Genzyme's Rare Disease NL Private for profit Registries The ALD Connect Patient Portal NL Private not-for-profit

The Intenational Pompe registry NL Private for profit The International Collaborative Gaucher Group NL Private for profit (ICGG) Gaucher registry The International Fabry registry NL Private for profit

The International Mps I registry NL Private for profit IOS : Icatibant Outcome Survey for hereditory SE Public angioedema

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 54 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Please note that all data presented in this report are available for download at www.orphadata.org

For any questions or comments, please contact us: [email protected]

Editor-in-chief: Ana Rath l Editor of the report: Emmanuel Maximel Visual design : Julie Christ l Photography : Patrice Latron / Inserm

The correct form when quoting this document is: « Rare Disease Registries in Europe », Orphanet Report Series, Rare Diseases collection, September 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

This Orphanet Report Series is part of the Direct Grant N°831390 which has received funding from the European Union’s Health Programme (2014-2020).

The content of this report represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

Orphanet Report Series - Rare Disease Registries in Europe - September 2020 55 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf