Orphanet Report Series Rare Diseases collection
May 2010
Patient Registries in Europe
www.orpha.net
HEALTH-F2-2008-201230 Table of contents
Methodology 3 Summary 4 1- Distribution of registries by country 4
2- Distribution of registries by coverage 5
3- Distribution of registries by institution 5
4- Network registries 5
Distribution of registries by country 6 European registries 25 International registries 27 Network registries 28
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Methodology
The patient registries and databases which are registered with Orphanet are those established in Europe and surrounding countries and which are open to collaboration with researchers. The data is updated annually. The data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If no research project is listed for a disease, a group of diseases or a gene, it may be that there is no ongoing research activity, or that we have not yet collected the information, but it is also possible that the researcher has refused to be listed.
For any questions or comments, please contact us: [email protected]
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 3 Summary
1- Distribution of registries by country
not Country Regional National European Global total defined AT - Austria 1 10 2 0 0 13 BE - Belgium 2 16 1 1 0 20 BG - Bulgaria 0 4 0 0 0 4 CH - Switzerland 1 5 0 1 0 7 CY - Cyprus 0 1 0 0 0 1 CZ - Czech Republic 0 3 0 0 0 3 DE - Germany 3 40 12 5 1 61 DK - Denmark 1 2 0 0 0 3 EE - Estonia 0 1 0 0 0 1 ES - Spain 4 23 2 0 0 29 FI - Finland 0 3 0 0 0 3 FR - France 15 92 11 1 1 120 GB - Great Britain 13 36 3 1 0 53 GR - Greece 0 1 0 0 0 1 HR - Croatia 0 1 0 0 0 1 HU - Hungary 0 2 0 0 0 2 IE - Ireland 4 5 0 0 0 9 IL - Israel 0 1 0 0 0 1 IS - Iceland 0 1 0 0 0 1 IT - Italy 9 31 2 4 0 46 LT - Lithuania 0 1 0 0 0 1 LU - Luxembourg 0 1 0 0 0 1 LV - Latvia 0 1 0 0 0 1 MK - Republic of Macedonia 0 1 0 0 0 1 NL - Netherlands 1 5 3 5 0 14 NO - Norway 0 1 1 0 0 2 PL - Poland 0 5 0 0 0 5 PT - Portugal 0 8 0 0 0 8 RO - Romania 0 2 0 0 0 2 RS - Serbia 0 3 0 0 0 3 SE - Sweden 0 12 0 3 0 15 SI - Slovenia 0 1 0 0 0 1 SK - Slovakia 0 1 0 0 0 1 TR - Turkey 0 3 0 0 0 3 UA - Ukraine 0 1 0 0 0 1 US - United States of America 0 0 0 6 0 6 TOTAL 54 324 37 27 2 444
4 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 2- Distribution of registries by coverage
COVERAGE NUMBER OF REGISTRIES REGIONAL 54 NATIONAL 324 EUROPEAN 37 GLOBAL 27 NOT DEFINED 2 TOTAL 444
3- Distribution of registries by institution
INSTITUTION NUMBER OF REGISTRIES ACADEMIC 422 PATIENT ORGANISATION 6 PRIVATE COMPANY 16 TOTAL 444
4- Network registries
NETWORKS NUMBER OF NETWORKS TOTAL 5
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 5 Distribution of registries by country
AT - AUSTRIA (13 registries) English label of the activity Coverage Institution Austrian acromegaly registry National Academic Austrian alpha-1 antitrypsin deficiency registry - National Academic contributes to the Alpha One International Registry (AIR) Austrian brain tumor registry National Academic Austrian chronic myeloid leukemia registry National Academic Austrian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Austrian Haemophilia Registry National Academic Austrian Huntington disease registry - ACR16 study National Academic Austrian myeloma registry National Academic Austrian registry for inborn errors of metabolism National Academic EMSA-SG: central registry for European multiple system European Academic atrophy patients and DNA Bank ENRAH: European alternating hemiplegia and rare European Academic epilepsies registry in childhood MDS: Austrian myelodysplastic syndromes patient registry National Academic Styrian registry of congenital anomalies - contributes to Regional Academic the EUROCAT network
BE - BELGIUM (20 registries) English label of the activity Coverage Institution ACROBEL: the Belgian registry on acromegaly, epidemiology National Academic and quality of care Antwerpen registry of congenital anomalies - contributes Regional Academic to the EUROCAT network Belgian alpha-1 antitrypsin deficiency registry - National Academic contributes to the Alpha One International Registry (AIR) Belgian cystic fibrosis patient registry (BMR-RBM) - National Academic contributes to the EUROCARE CF and the ECFS registries Belgian familial adenomatous polyposis registry National Academic Belgian Neuromuscular Disease Registry National Academic Belgian patient database for Wilson disease - contributes National Academic to the EuroWilson registry Belgian patient registry for Duchenne and Becker muscular National Academic dystrophy - part of the TREAT-NMD network Belgian patient registry for rare bleeding disorders - National Academic contributes to the RBDD international registry Belgian registry of primary immunodeficiencies - National Academic contributes to the ESID European registry
6 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Belgian rituximab therapy registry for immune anemia and National Academic thrombocytopenia Belgian severe chronic neutropenia patient registry - National Academic contributes to the SCN international registry (SCNIR) Belgian sickle cell anemia registry National Academic Belgian systemic sclerosis cohort National Academic ENRAH: Belgian contribution to European registry for National Academic alternating hemiplegia in childhood EUNEFRON: registry of the European network for the study European Academic of orphan nephropathies EURECHINOREG: Belgian contribution to the European National Academic registry of human alveolar echinococcosis Hainault and Namur registry of congenital anomalies - Regional Academic contributes to the EUROCAT network LCH: Belgian Langerhans cell histiocytosis registry National Academic Pediatric granulomatous arthritis international registry Global Academic
BG - BULGARIA (4 registries) English label of the activity Coverage Institution Bulgarian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry Bulgarian registry of patients with thalassaemia National Academic Duchenne and Becker muscular dystrophy and spinal National Academic muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network The Bulgarian genetic registry of monogenic disorders National Academic
CH - SWITZERLAND (6 registries) English label of the activity Coverage Institution Duchenne and Becker muscular dystrophy and spinal National Academic muscular dystrophy patient registries in Switzerland - contributes to the TREAT-NMD network PNH Registry (Paroxysmal Nocturnal Hemoglobinuria Global Private company registry) Swiss alpha-1 antitrypsin deficiency registry - contributes National Academic to the Alpha One International Registry (AIR) Swiss cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Swiss registries for Interstitial and Orphan Lung Diseases National Academic (SIOLD) Swiss registry of biliary atresia - contributes to the EBAR National Academic registry Vaud registry of congenital anomalies - contributes to the Regional Academic EUROCAT network
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 7 CY - CYPRUS (1 registry) English label of the activity Coverage Institution Cyprian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
CZ - CZECH REPUBLIC (3 registries) English label of the activity Coverage Institution Czech cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Duchenne and Becker muscular dystrophy patient registry National Academic in the Czech Republic and Slovakia - contributes to the TREAT-NMD network Spinal muscular atrophy patient registry in the Czech National Academic Republic - part of the TREAT-NMD network
DE - GERMANY (61 registries) DE-English label of the activity Coverage Institution AID-NET : Clinical Registry and Biobank (DNA/RNA/serum) National Academic for autoinflammatory syndromes (children) Centre Saxony-Anhalt registry of congenital anomalies - Regional Academic contributes to the EUROCAT network CompERA-XL: International, prospective registry for the European Academic documentation of first-line and maintenance therapy in patients with pulmonary hypertension Conn Registry: German registry of primary aldosteronism National Academic CURE-Net : National registry for congenital uro-rectal National Academic malformations Duchenne and Becker muscular dystrophy and spinal National Academic muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network EBAR: European Biliary Atresia Registry European Academic EHDN: European Huntington's disease registry European Academic EHDN: neuroacanthocytosis patient registry Global Academic ESID: European registry of primary immunodeficiencies Global Academic EurIPFnet : European idiopathic pulmonary fibrosis registry European Academic EURIPIDES: European Registry for ICD and CRT devices in European Academic pediatrics and adults with congenital heart disease European Alport registry European Academic European Epilepsy Brain Bank (EPICURE Project) European Academic EUROSCA-R: European patient registry and biobank on European Academic spinocerebellar ataxias EUTOS: European chronic myeloid leukemia patient registry European Academic (collaboration between the European LeukemiaNet and Novartis Europe)
8 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf GeNeMove: German database for wilson disease National Academic German acromegaly registry National Academic German adrenal tumors registry National Academic German AID (Autoinflammatory disorders) registry National Academic German alpha-1 antitrypsin deficiency registry - National Academic contributes to the Alpha One International Registry (AIR) German cystic fibrosis registry - contributes to the National Academic EUROCARE CF registry German Epilepsy Registry National Academic German Fanconi anemia registry National Academic German gastrointestinal stromal tumor registry National Academic German Haemophilia Registry (DHR) National Academic German mucopolysaccharidosis patient registry Not defined Academic German multiple endocrine neoplasia type 1 (MEN 1) National Academic registry German paroxysmal nocturnal hemoglobinuria registry National Academic German pituitary tumors registry National Academic German registry for congenital heart defects - part of the National Academic competence network for congenital heart defects German registry for congenital thrombocytopenia National Academic German registry for Morbus Adamantiades-Behçet e.V. National Academic German registry for papulosis atrophicans maligna National Academic German registry for patients with pulmonary hypertension National Academic German registry of congenital dyserythropoietic anemias National Academic (CDA) German vasculitis registry National Academic GMALL-registry and biobank: registry for adult patients National Academic with acute lymphoblastic leukemia or related diseases HepNet: German hepatocellular carcinoma (HCC) registry National Academic International pheochromocytoma and paraganglioma Global Academic registry INVM (Isolated Noncompaction of Ventricular Myocardium) National Academic registry LCH: German Langerhans cell histiocystosis registry National Academic Mainz registry of congenital anomalies - contributes to the Regional Academic EUROCAT network MAISTHRO-Registry : multicentric thrombophilia registry National Academic (MAIn-ISar-THROmbose-Register) MDS: German myelodysplastic syndromes patient registry National Academic National FKRP-patient registry germany - part of the TREAT- National Academic NMD network NCL-Registry: International neuronal ceroid lipofuscinoses European Academic patient registry NET-Registry: German neuroendocrine gastrointestinal National Academic tumors NIRK: national central registry for ichthyoses and related National Academic keratinization disorders
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 9 NIRK: patient registry for autosomal recessive congenital National Academic ichthyosis NKR: German registry for adrenocortical carcinoma National Academic Patient registry of the German Network for Systemic National Academic Scleroderma RAMEDIS : Rare Metabolic Diseases Database National Academic RegiSCAR: European registry of severe cutaneous adverse European Academic reactions (SCAR) to drugs and collection of biological samples Registry for children with congenital limb malformations National Academic Registry for congenital melanocytic nevi and National Academic neurocutaneous melanocytosis Registry for Merkel Cell Carcinoma National Academic RetDis Database European Academic SCNIR: severe chronic neutropenia international registry Global Academic STER: FVII deficiency treatment international registry Global Academic Von Hippel-Lindau registry Regional Academic
DK - DENMARK (3 registries) English label of the activity Coverage Institution Danish cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Danish malignant hyperthermia registry - contributes to National Academic the European Malignant Hyperthermia Group (EMHG) Funen county registry of congenital anomalies - Regional Academic contributes to the EUROCAT network
EE - ESTONIA (1 registry) English label of the activity Coverage Institution Estonian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
ES - SPAIN (29 registries) English label of the activity Coverage Institution Asturias registry of congenital anomalies - contributes to Regional Academic the EUROCAT network Barcelona birth defects registry - contributes to the Regional Academic EUROCAT network Budd-Chiari syndrome (BCS) and Hepatic vascular diseases National Academic registry ERCUSYN: European registry on Cushing's syndrome European Academic EUGINDAT-PIADATABASE: European primary inherited European Academic aminoacidurias database
10 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf GIRMOGEN_PRO Database. Mental retardation with genetics National Academic etiology in Spain REA: Acromegaly Spanish registry National Academic RECOMINA: Spanish registry of microscopic colitis National Academic REDIP: Spanish registry of primary immunodeficiencies - National Academic contributes to the ESID European registry Registry for rare disorders in Extremadura (Spain) Regional Academic Registry of congenital anomalies of the Basque Country Regional Academic (Spain) - contributes to the EUROCAT network Registry of rare diseases: multiple endocrine neoplasia, National Academic acromegaly and enteropancreatic endocrine tumors. REHAP: Spanish Registry of Pulmonary Arterial National Academic Hypertension RETEGEP: Spanish Registry of Gastroenteropancreatic National Academic Endocrine Tumors Spanish alpha-1 antitrypsin deficiency registry - National Academic contributes to the Alpha One International Registry (AIR) Spanish cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Spanish Familial Adenomatous Polyposis Registry National Academic Spanish Gaucher's disease registry National Academic Spanish hereditary retinal dystrophy registry National Academic Spanish myelodysplasic syndromes registry National Academic Spanish National Human Transmissible Spongiform National Academic Encephalopathies Registry Spanish Overgrowth Syndrome Registry National Academic Spanish registry of angioneurotic edema patients National Academic Spanish registry of Duchenne muscular dystrophy - part of National Academic the TREAT-NMD network Spanish registry of metabolic hereditary diseases National Academic Spanish registry of POEMS syndrome patients National Academic (Osteosclerotic myeloma) Spanish registry of renal hereditary diseases National Academic Spanish registry of the patients with fragile X syndrome National Academic Spanisht patient registry for spinal muscular atrophy - part National Academic of the TREAT-NMD network
FI- FINLAND (3 registries) English label of the activity Coverage Institution Duchenne and Becker muscular dystrophy and spinal National Patient organisation muscular dystrophy patient registries in Finland - contributes to the TREAT-NMD network Finnish registry of congenital anomalies - contributes to National Academic the EUROCAT network The Finnish registry of visual impairment National Academic
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 11 FR - FRANCE (120 registries) English label of the activity Coverage Institution Aquitaine registry of mesothelioma Regional Academic Auvergne registry of congenital anomalies - contributes to Regional Academic the EUROCAT network Bas-Rhin registry of congenital anomalies - contributes to Regional Academic the EUROCAT network Basse Normandie registry of hematological malignancies Regional Academic BH4: French registry of tetrahydrobiopterin deficiencies National Academic BLAU registry: French pediatric granulomatous arthritis National Academic registry Children and adolescents with Acute leukemia : propective National Academic cohort in France (LEA) CoF-AT study: a French cohort on ataxia-telangiectasia National Academic Cohort and biobank including continuous cell lines in National Academic chorioretinopathy, birdshot type Cohort of patients affected by Marfan or related syndrome National Academic Cohort of patients with hereditary dystrophies of retina Not defined Academic Côte d'Or registry of hematological malignancies Regional Academic Cystadane post marketing registry of patient with European Private company homocystinuria D[4]/Phenodent: French registry of patients affected by National Academic rare odontologic diseases Duchenne and Becker muscular dystrophy patient registry National Academic in France - part of the TREAT-NMD network EHN - EURO-HISTIO-NET: European registry of Langerhans European Academic Cell Histiocytosis ENET Registry: European Neuro-Endocrine Tumors Group National Academic EPI-EPNET: European hepatic and erythropoietic porphyrias European Academic registry EPIMAD: registry of chronic inflammatory intestine Regional Academic diseases in North-West Escort-Hu: European Sickle cell disease Coh0RT European Private company - HydroxyUrea Establishment of children and adolescents cohort in Behcet National Academic disease in France EURECHINOREG: European registry of alveolar European Academic echinococcosis European central hypoventilation syndrome registry European Academic European prospective registry of children born to mothers European Academic affected by the antiphospholipids syndrome EUROTRAPS: European patient registry on TRAPS syndrome European Academic FranceCoag: French prospective cohort of patients affected National Academic with haemophilia or severe form of other hereditary hemorrhagic diseases except platelet disorders FRANCIM: general registry of tumors of the Calvados region National Academic in France French acromegaly registry National Academic
12 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf French addictive acute intoxications cohort National Academic French amyotrophic lateral sclerosis patient registry National Academic French atypical sarcoïdosis clinical forms registry National Academic French auto-immunity and Rituximab (AIR) registry: National Academic prospective study of patients treated with Rituximab French biobank of specific locus UMD-DMD for DMD gene National Academic mutations French bradykinic idiopathic angioneurotic edema and National Academic oestrogen-sensitive registry French central hypoventilation syndrome registry - will National Academic contribute to the European CHS registry French certified patient registry for Langerhans cell National Academic histiocytosis and biological collection French certified registry of congenital neutropenia National Academic French certified registry of glycogen storage disease type 2 National Academic French certified registry of patients affected by thalassemia National Academic French certified registry of patients affected by the National Academic Gaucher disease French cohort and biological samples collection in primary National Academic ciliary dyskinesia French cohort creation in retinitis pigmentosa National Academic French cohort for auto-inflammatory diseases National Academic French cohort in genetic microcephalies National Academic French cohort of acquired autoimmune haemolytic anaemia National Academic French cohort of Castleman's disease National Academic French cohort of common variable immunodeficiency with National Academic hypogammaglobulinemia in adults (CVID) French cohort of focal dystonia famillies National Academic French cohort of idiopathic pulmonary fibrosis and National Academic biological collection French cohort of inflammatory bowel disease (IBD) National Academic French cohort of rare diabetes (monogenic forms and National Academic syndromic forms) French cohort of Usher syndrome National Academic French Cohorts in Sneddon syndrome and suspected National Academic Sneddon syndrome livedo French constitutive hematologic diseases registry National Academic French cystic fibrosis cohort National Academic French cystic fibrosis patient registry National Patient organisation French cystinosis registry National Academic French epidemiological registry of esophageal atresia National Academic French familial cardiac malformations registry National Academic French observatory of biliary atresia National Academic French observatory of gastric linitis plastica National Academic French observatory of primary biliary cirrhosis National Academic French observatory of primitive sclerosing cholangitis National Academic
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 13 French patient registry affected by genetic deafness in National Academic France French pediatric registry of rituximab treated patients National Academic affected by severe systemic diseases - contributes to the French AIR registry French primary immunodeficiencies registry National Academic French prospective cohort of childhood care for National Academic autoimmune haemolytic anemia and Evans syndrome French prospective follow-up cohort of child affected by National Academic autoimmune haemolytic anemia (AHAI), Evans syndrome and thrombocytopenic autoimmune purpura (ATP) French registry for capillary leak syndromes National Academic French registry for macrophagic myofasciitis National Academic French registry for right arrythmogenic ventricular National Academic dysplasia (ARVC/D) French registry of autosomal recessive polycystic kidney National Academic disease French registry of cases of spontaneous periodic National Academic hypothermia French registry of child handicap and perinatal observatory National Academic French registry of child hematological malignancies National Academic French registry of child hemolytic uremic syndrome National Academic French registry of children solid tumors National Academic French registry of corticosteroid-sensitive aseptic abscess National Academic French registry of endocrine tumors National Academic French registry of generalized resistance to thyroid National Academic hormone French registry of hereditary dyslipidemia in children: National Academic combined dyslipidemias French registry of Iron overload genetic rare diseases, non- National Academic related to the HFE gene French registry of Kabuki syndrome National Academic French registry of Marshall's syndrome with periodic fever National Academic French registry of neuromuscular diseases from reference National Academic centres French registry of pregnant women carriers of anti-SSA National Academic antibodies French registry of rare genetic metabolism disorders of National Academic steroids - contributing to the international RGSDC registry French registry of rare hypersomnias National Academic French registry of rare pulmonary hypertension (HTAP) National Academic French sickle cell anemia registry National Academic French Still disease patient registry National Academic French Williams syndrome cohort National Academic FROG: FRench Observatory on Gaucher disease National Private company GENEPSO: French epidemiological cohort of BRCA systemic National Academic mutations carriers Gironde registry of hematological malignancies Regional Academic
14 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Idiopathic pulmonary fibrosis: Cohort studies for evaluation National Academic of pronostic factors, therapeutic evaluation INFEVERS: European registry of mutations involved European Academic in familial mediterranean fever (FMF) and hereditary autoinflammatory disorders International FKRP registry - part of TREAT-NMD network Global Academic ITINERAIR-HTAP: French cohort of adult with pulmonary National Private company arterial hypertension ITINERAIR-pediatrie: French cohort of children with National Private company pulmonary arterial hypertension ITINERAIR-scleroderma: French pulmonary arterial National Private company hypertension screening cohort of patients with scleroderma Left ventricular noncompaction French registry National Academic Mesotheliomas cohort in Seine Saint-Denis and Val de Regional Academic Marne Myotonic dystrophy patient registry in France - part of the National Academic TREAT-NMD network NOMAD'MUS: French cohort and biobank of Devic's National Academic neuromyelitis optica and related neurological disorders Paris registry of congenital anomalies - contributes to the Regional Academic EUROCAT network PHA1-NET: PseudoHypoAldosteronism type 1 cohort National Academic Phenotyping and genotyping of Leber amaurosis and National Academic retinitis pigmentosa patients in order to assess the clinical trial in gene therapy Primary central nervous system tumors registry of Gironde Regional Academic Registry and pronostic cohort of cutaneous lymphomas in Regional Academic Aquitaine Registry for tumors in Herault (south of France) Regional Academic Registry of digestive tumors in Calvados (province of Regional Academic France) Registry of observed trichinellosis cases in France yearly National Academic Registry of the network studying thrombotic National Academic microangiopathies Rhombencephalosynapsis: cohort and biological collection National Academic in France Rhône-Alpes registry of congenital anomalies - contributes Regional Academic to the EUROCAT network Rhône-Alpes registry of systemic mastocytosis Regional Academic SYRENE: Rett syndrome network - French database of National Academic clinical and genetic aspects of Rett syndrome VALID: cohort creation: Budd-Chiari syndrome, hepatic European Academic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis Vedrop registry of chronic cholestasis patient with vitamin European Private company E deficiency
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 15 GB - GREAT BRITAIN (53 registries) English label of the activity Coverage Institution AOMIC: adult onset myositis immunogenetic collaboration National Academic BPOLD: British Paediatric Orphan Lung Disease Registry National Academic CARIS - Welsh registry of congenital anomalies - part of Regional Academic BINOCAR and EUROCAT network CAROBB - congenital anomalies registry for Oxfordshire, Regional Academic Berkshire & Buckinghamshire - part of the BINOCAR and EUROCAT network CRANE: database of patients with cleft lip and/or cleft National Academic palate in England and Wales Duchenne and Becker muscular dystrophy patient registry National Patient organisation in United Kingdom and Ireland - part of the TREAT-NMD network EHDN: registry of juvenile Huntington's disease Global Academic EMSYCAR - East Midlands & South Yorkshire congenital Regional Academic anomalies registry - part of BINOCAR and EUROCAT network English alpha-1 antitrypsin deficiency registry - contributes National Academic to the Alpha One International Registry (AIR) English and Irish Fanconi anaemia registry National Academic English central hypoventilation syndrome registry - will National Academic contribute to the European CHS registry from 2011 on English cystic fibrosis database National Academic English cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF and ECFS registries English cystinosis registry National Academic English dyskeratosis congenita registry National Academic English Gaucher registry National Academic English hereditary angioedema patient registry - part of National Academic the HAE European registry English hyperoxaluria registry National Academic English juvenile dermatomyositis registry and repository National Academic English mucopolysaccharidosis registry National Patient organisation English phenylketonuria registry National Academic English registry for lymphangioleiomyomatosis National Academic English registry of biliary atresia - contributes to the EBAR National Academic registry English registry of primary immunodeficiencies - National Academic contributes to the ESID European registry English registry of syndromes with abnormal vertebral National Academic segmentation English registry of Wolf-Hirschhorn syndrome National Academic English severe chronic neutropenia registry - contributes to National Academic the SCN international registry (SCNIR) EUHASS: European haemophilia safety surveillance European Academic database European Prader-Willi syndrome database European Academic
16 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf EUROWILSON: European clinical database for Wilson European Academic disease Glasgow registry of congenital anomalies - part of BINOCAR Regional Academic and EUROCAT network LCH: English Langerhans cell histiocytosis registry National Academic Merseyside and Cheshire registry of congenital anomalies Regional Academic -part of BINOCAR and EUROCAT network Myotonic dystrophy patient registry in United Kingdom - National Academic part of the TREAT-NMD network National Congenital Anomaly System (NCAS) - part of Regional Academic BINOCAR and EUROCAT network NDSCR - national Down syndrome cytogenetic registry - National Academic part of BINOCAR and EUROCAT network NHD: the national haemophilia database National Academic NHR: National Haemoglobinopathy Registry National Academic NorCAS - Northern registry of congenital anomalies - part Regional Academic of BINOCAR and EUROCAT network North-east paediatric cardiology database Regional Academic Regional spinocerebellar ataxia registry Regional Academic Renal RADAR: UK renal rare disease registry and biobank National Academic SCAR - Scottish registry of congenital anomalies - part of Regional Academic BINOCAR and EUROCAT network Spinal muscular atrophy patient registry in United Kingdom National Academic and Ireland - part of the TREAT-NMD network Spinocerebellar ataxia type 1 registry National Academic SWCAR - South West congenital anomalies registry - part of Regional Academic BINOCAR and EUROCAT network UKAITPR: United Kingdom adult idiopathic National Academic thrombocytopenic purpura registry UKESR: United Kingdom Evans Syndrome Registry National Academic UKFITPR: United Kingdom familial idiopathic National Academic thrombocytopenic purpura (ITP) Registry United Kingdom neuromyelitis optica registry National Academic WANDA - Wessex registry of antenatally detected anomalies Regional Academic - part of BINOCAR and EUROCAT network West Midlands registry of congenital anomalies - part of Regional Academic BINOCAR and EUROCAT network Greek cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
GR - GREECE (2 registries) English label of the activity Coverage Institution Greek severe chronic neutropenia patient registry - National Academic contributes to the SCN international registry (SCNIR)
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 17 HR - CROATIA (1 registry) English label of the activity Coverage Institution Croatian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
HU - HUNGARY (2 registries) English label of the activity Coverage Institution Duchenne and Becker muscular dystrophy and spinal National Academic muscular dystrophy patient registries in Hungary - contributes to the TREAT-NMD network Hungarian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
IE - IRELAND (9 registries) English label of the activity Coverage Institution Dublin regsitry of congenital anomalies - contributes to Regional Academic the EUROCAT network Galway registry of congenital anomalies - contributes to Regional Academic the EUROCAT network Irish cystic fibrosis registry - contributes to the EUROCARE National Academic CF registry Irish registry of amyotrophic lateral sclerosis and motor National Academic neurone disease Irish registry of the Hurler syndrome National Academic Myelodysplastic syndromes disease specific registry National Academic Registry for Bernard-Soulier syndrome National Academic South East of Ireland registry of congenital anomalies - Regional Academic part of BINOCAR and EUROCAT network South of Ireland registry of congenital anomalies - Regional Academic contributes to the EUROCAT network
IL - ISRAEL (1 registry) English label of the activity Coverage Institution Israeli cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
IS - ICELAND (1 registry) English label of the activity Coverage Institution Icelander cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
18 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf IT - ITALY (46 registries) English label of the activity Coverage Institution Arrhythmogenic right ventricular cardiomyopathy/ National Academic dysplasia: clinical registry and database, evaluation of therapies, pathology registry, DNA banking Campania registry of congenital anomalies - contributes to Regional Academic the EUROCAT network Duchenne and Becker muscular dystrophy and spinal National Academic muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network Emilia Romagna registry of congenital anomalies (IMER) - Regional Academic contributes to the EUROCAT registry Friedreich's ataxia italian patient registry National Academic GLATIT: Glanzmann thrombasthenia Italian registry National Academic HAE-registry: European hereditary angioedema patient European Academic registry International registry of bone fragility fractures in the Global Academic young International registry of congenital dyserythropoietic European Academic anemia International Registry of Rare Bleeding Disorders (RBDD) Global Academic International registry of recurrent and familial hemolytic Global Academic uremic syndrome / thrombotic thrombocytopenic purpura International registry on thrombotic thrombocytopenic Global Academic purpura (TTP) Italian alpha-1 antitrypsin deficiency registry - contributes National Academic to the Alpha One International Registry (AIR) Italian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Italian genetic movement disorders registry National Academic Italian Li-Fraumeni syndrome registry National Academic Italian neuroblastoma registry National Academic Italian registry for cri du chat syndrome National Academic Italian registry for familial mediterranean fever in the National Academic young Italian registry for hereditary multiple exostoses National Academic Italian registry for MYH9-related thrombocytopenia National Academic Italian registry of congenital nephrotic syndromes National Academic Italian registry of Creutzfeldt-Jakob disease and correlated National Academic syndromes Italian registry of diffuse infiltratived pneumopathies National Academic Italian registry of hemophilia centre (AICE) National Academic Italian registry of hypertrophic cardiomyopathy in National Academic Anderson-Fabry disease
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 19 Italian registry of Legionellosis National Academic Italian registry of maturity onset diabetes of the young National Academic (MODY) Italian registry of Muscle Chanel-Diseases National Academic Italian registry of myotonic dystrophies National Academic Italian registry of patients and families affected by National Academic Pseudoxanthoma Elasticum Italian Registry on familial mediterranean fever, adult National Academic department Italian retinoblastoma registry National Academic North-east Italy registry of neurofibromatoses Regional Academic North-East of Italy registry of congenital anomalies - Regional Academic contributes to the EUROCAT network Regional registry for neuromuscular disorders Regional Academic Registry of inherited bleeding disorders in Emilia-Romagna Regional Academic region Registry to monitor pregnancies in patients affected by National Academic essential thrombocythemia RIAF: Fanconi's anemia Italian registry National Academic RIAT: Ataxia teleangiectasia Italian registry National Academic RICH: the Italian registry of infants with congenital National Academic hypothyroidism RIMM: Italian registry for myelofibrosis with myeloid National Academic metaplasia Sicilian registry of congenital anomalies (ISMAC) - Regional Academic contributes to the EUROCAT network Tuscany registry of congenital anomalies - contributes to Regional Academic the EUROCAT network Venetian registry of rare diseases Regional Academic V-RIAT: variant Ataxia telangiectasia Italian registry National Academic
LT - LITHUANIA (1 registry) English label of the activity Coverage Institution Lithuanian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
LU - LUXEMBOURG (1 registry) English label of the activity Coverage Institution Luxembourgers cystic fibrosis patient registry - contributes National Academic to the EUROCARE CF registry
20 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf LV - LATVIA (1 registry) English label of the activity Coverage Institution Latvian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
MK - REPUBLIC OF MACEDONIA (1 registry) English label of the activity Coverage Institution Macedonian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
NL - NETHERLANDS (14 registries) English label of the activity Coverage Institution CONCOR: Dutch registry of patients with a congenital heart National Academic malformation Duchenne and Becker muscular dystrophy patient registry National Academic in the Netherlands - part of the TREAT-NMD network Dutch alpha-1 antitrypsin deficiency registry - contributes National Academic to the Alpha One International Registry (AIR) Dutch cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry ECARUCA: cytogenetic and clinical database on rare European Academic chromosomal disorders EPCOT: European prospective cohort on thrombophilia European Academic Nephrotic syndrome registry Global Academic North Netherlands registry of congenital anomalies - Regional Academic contributes to the EUROCAT network PAN research registry: Prospective amyotrophic lateral National Academic sclerosis (ALS) study Netherlands The intenational Pompe registry Global Private company The International Collaborative Gaucher Group (ICGG) Global Private company Gaucher registry The international Fabry registry Global Private company The international Mps I registry Global Private company X-ALD: X-linked adrenoleukodystrophy database European Academic
NO - NORWAY (2 registries) English label of the activity Coverage Institution EURADRENAL: European patient registry and biobank on European Academic autoimmune Addison's disease Norwegian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 21 PL - POLAND (5 registries) English label of the activity Coverage Institution Duchenne and Becker muscular dystrophy and spinal National Academic muscular dystrophy patient registries in Poland - contributes to the TREAT-NMD network Polish cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Polish registry of primary immunodeficiencies - contributes National Academic to the ESID European registry Polish Silver-Russell syndrome patient registry National Academic PRCM: Polish registry of congenital malformations - National Academic contributes to the EUROCAT network
PT - PORTUGAL (8 registries) English label of the activity Coverage Institution Duchenne and Becker muscular dystrophy patient registry National Academic in Portugal - contributes to the TREAT-NMD network Portugues centre for study and registry of congenital National Academic anomalies (CERAC) - contributes to the EUROCAT network Portuguese cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry Portuguese Fabry registry National Academic Portuguese registry of biliary atresia - contributes to the National Academic EBAR registry Portuguese registry of primary immunodeficiency diseases National Academic (REPORID) Portuguese Rett syndrome registry National Academic Portuguese severe chronic neutropenia patient registry - National Academic contributes to the SCN international registry (SCNIR)
RO - ROMANIA (2 registries) English label of the activity Coverage Institution Romanian biliary atresia registry National Academic Romanian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
RS - SERBIA (3 registries) English label of the activity Coverage Institution Serbian cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Serbian registry of haemophilia and von Willebrand disease National Academic patients Serbian registry of patients with rare bleeding disorders - National Academic contributes to the RBDD international registry
22 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf SE - SWEDEN (15 registries) English label of the activity Coverage Institution FOS : Fabry Outcome Survey Global Private company HOS : Hunter Outcome Survey Global Private company IOS : Icatibant Outcome Survey for hereditory angioedema Global Private company National registry on bronchopulmonary dysplasia National Academic SPAHR: Swedish Pulmonary Arterial Hypertension Registry National Academic SWEDCON: Swedish Registry of Congenital Heart Disease National Academic Swedish Acute Myelogenous Leucaemia Registry National Academic Swedish alpha-1 antitrypsin deficiency registry - National Academic contributes to the Alpha One International Registry (AIR) Swedish Chronic Myeloid Leucaemia Registry National Academic Swedish cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry Swedish Multiple Myeloma Registry National Academic Swedish National Database Usher Syndrome National Academic Swedish Polyposis Registry National Academic Swedish Registry for Familial Amyloid Polyneuropathy National Academic SWEDROP: Swedish Registry for Retinopathy of Prematurity National Academic
SI - SLOVENIA (1 registry) English label of the activity Coverage Institution Slovenian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
SK - SLOVAKIA (1 registry) English label of the activity Coverage Institution Slovakian cystic fibrosis patient registry - contributes to National Academic the EUROCARE CF registry
TR - TURKEY (3 registries) English label of the activity Coverage Institution A database setup for visualisation and examination of oral National Academic ulcers in Behcet disease patients Duchenne and Becker muscular dystrophy and spinal National Academic muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network Turkish cystic fibrosis patient registry - contributes to the National Academic EUROCARE CF registry
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 23 UA - UKRAINE (1 registry) English label of the activity Coverage Institution Spinal muscular atrophy patient registry in Ukraine - part National Academic of the TREAT-NMD network
US - UNITED STATES (6 registries) English label of the activity Coverage Institution CMDIR: congenital muscular dystrophy international Global Academic registry International Friedreich Ataxia Research Alliance (FARA) Global Patient organisation registry International Morquio A registry Global Patient organisation International Rare Genetic Steroid Disorders Consortium Global Academic (RGSDC) registry International registry for primary hyperoxaluria Global Academic THAOS: transthyretin amyloidosis outcomes survey Global Private company
24 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf European registries
EUROPEAN REGISTRIES (37 registries) English label of the activity Coordination Institution EMSA-SG: central registry for European multiple system AT Academic atrophy patients and DNA Bank ENRAH: European alternating hemiplegia and rare epilepsies AT Academic registry in childhood EUNEFRON: registry of the European network for the study BE Academic of orphan nephropathies CompERA-XL: International, prospective registry for the DE Academic documentation of first-line and maintenance therapy in patients with pulmonary hypertension EBAR: European Biliary Atresia Registry DE Academic EHDN: European Huntington's disease registry DE Academic EurIPFnet : European idiopathic pulmonary fibrosis registry DE Academic EURIPIDES: European Registry for ICD and CRT devices in DE Academic pediatrics and adults with congenital heart disease European Alport registry DE Academic European Epilepsy Brain Bank (EPICURE Project) DE Academic EUROSCA-R: European patient registry and biobank on DE Academic spinocerebellar ataxias EUTOS: European chronic myeloid leukemia patient registry DE Academic (collaboration between the European LeukemiaNet and Novartis Europe) NCL-Registry: International neuronal ceroid lipofuscinoses DE Academic patient registry RegiSCAR: European registry of severe cutaneous adverse DE Academic reactions (SCAR) to drugs and collection of biological samples RetDis Database DE Academic ERCUSYN: European registry on Cushing's syndrome ES Academic EUGINDAT-PIADATABASE: European primary inherited ES Academic aminoacidurias database Cystadane post marketing registry of patient with FR Private company homocystinuria EHN - EURO-HISTIO-NET: European registry of Langerhans FR Academic Cell Histiocytosis EPI-EPNET: European hepatic and erythropoietic porphyrias FR Academic registry Escort-Hu: European Sickle cell disease Coh0RT FR Private company - HydroxyUrea EURECHINOREG: European registry of alveolar FR Academic echinococcosis European central hypoventilation syndrome registry FR Academic
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 25 European prospective registry of children born to mothers FR Academic affected by the antiphospholipids syndrome EUROTRAPS: European patient registry on TRAPS syndrome FR Academic INFEVERS: European registry of mutations involved FR Academic in familial mediterranean fever (FMF) and hereditary autoinflammatory disorders VALID: cohort creation: Budd-Chiari syndrome, hepatic FR Academic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis Vedrop registry of chronic cholestasis patient with vitamin FR Private company E deficiency EUHASS: European haemophilia safety surveillance database GB Academic European Prader-Willi syndrome database GB Academic EUROWILSON: European clinical database for Wilson disease GB Academic HAE-registry: European hereditary angioedema patient IT Academic registry International registry of congenital dyserythropoietic IT Academic anemia ECARUCA: cytogenetic and clinical database on rare NL Academic chromosomal disorders EPCOT: European prospective cohort on thrombophilia NL Academic X-ALD: X-linked adrenoleukodystrophy database NL Academic EURADRENAL: European patient registry and biobank on NO Academic autoimmune Addison's disease
26 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf International registries
INTERNATIONAL REGISTRIES (27 registries) English label of the activity Coordination Institution Pediatric granulomatous arthritis international registry BE Academic PNH Registry (Paroxysmal Nocturnal Hemoglobinuria CH Private company registry) EHDN: neuroacanthocytosis patient registry DE Academic ESID: European registry of primary immunodeficiencies DE Academic International pheochromocytoma and paraganglioma DE Academic registry SCNIR: severe chronic neutropenia international registry DE Academic STER: FVII deficiency treatment international registry DE Academic International FKRP registry - part of TREAT-NMD network FR Academic EHDN: registry of juvenile Huntington's disease GB Academic International registry of bone fragility fractures in the IT Academic young International Registry of Rare Bleeding Disorders (RBDD) IT Academic International registry of recurrent and familial hemolytic IT Academic uremic syndrome / thrombotic thrombocytopenic purpura International registry on thrombotic thrombocytopenic IT Academic purpura (TTP) Nephrotic syndrome registry NL Academic The intenational Pompe registry NL Private company The International Collaborative Gaucher Group (ICGG) NL Private company Gaucher registry The international Fabry registry NL Private company The international Mps I registry NL Private company FOS : Fabry Outcome Survey SE Private company HOS : Hunter Outcome Survey SE Private company IOS : Icatibant Outcome Survey for hereditory angioedema SE Private company CMDIR: congenital muscular dystrophy international US Academic registry International Friedreich Ataxia Research Alliance (FARA) US Patient organisation registry International Morquio A registry US Patient organisation International Rare Genetic Steroid Disorders Consortium US Academic (RGSDC) registry International registry for primary hyperoxaluria US Academic THAOS: transthyretin amyloidosis outcomes survey US Private company
Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 27 Network registries
NETWORK REGISTRIES (5 registries) English label of the activity Coordination Coverage BINOCAR: British Isles network of congenital anomaly GB National registries EUROCARE CF: European cystic fibrosis registry GB Global EUROCAT: European Concerted Action on Congenital GB European Anomalies and Twins HAE: European hereditary angioedema patient registry IT European TREAT-NMD: Accelerating Treatments for Neuromuscular GB European Diseases
For any questions or comments, please contact us: [email protected]
Editor-in-chief: Ségolène Aymé Editor of the report: Nicolas Doulet Visual design : Céline Angin Photography : Patrice Latron / Inserm
The correct form when quoting this document is: « Patient registries in the Orphanet database », Orphanet Report Series, Rare Diseases collection, May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registies.pdf
28 Orphanet Report Series - Patient Registries in the Orphanet database - May 2010 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf