Curriculum Vitae

PERSONAL INFORMATION Ulrike Schara

WORK EXPERIENCE

1991- 1997 Education in Paediatrics Paediatric Outpatient Centre,City Hospital Gelsenkirchen. (Germany) Paediatric Outpatient Centre. City Hospital Gelsenkirchen.
Childrens Hospital, Ruhr University Bochum

1998- 2002 Senior Neuropediatrics Children's University Hospital Bochum (Germany) .

2002- 2003 Head of Neuropediatrics Children's University Hospital Bochum (Germany)

2004- 2006 Head of Neuropediatrics Children's Hospital, City of Neuss (Germany)

2007- Present Head of the Neuropaediatric Outpatient Centre and Consultant for Neuropaediatrics University of Essen (Germany)

EDUCATION AND TRAINING

1991- 2012 MD, Professor Ruhr University of Bochum, Germany University of Essen (Germany)

ADDITIONAL INFORMATION

Expertise

Publications Publcations of the past 5 years 1.Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016 Jan;89(1):34-43 2.Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar;139(Pt 3):765-81

29/12/2020 European Medicine Agency Page 1/9 3.Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R. Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis. 2016 May;39(3):427-36 4.Preuße C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, Doeser A, Schneider U, Alten RH, Kallinich T, Benveniste O, von Moers A, Schoser B, Schara U, Stenzel W. Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis. Acta Neuropathol Commun. 2016 Apr 27;4(1):45 5.McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM; DELOS Study Group. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2016 Aug;26(8):473-80 6.Tacke M, Gerstl L, Heinen F, Heukaeufer I, Bonfert M, Bast T, Cornell S, Neubauer BA, Borggraefe I; German HEAD Study group. Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS. Eur J Paediatr Neurol. 2016 Nov;20(6):874-879. 7.Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM; DELOS Study Group. Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy. Pediatr Pulmonol. 2017 Apr;52(4):508-515

8.Meier T, Rummey C, Leinonen M, Spagnolo P, Mayer OH, Buyse GM; DELOS Study Group. Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2017 Apr;27(4):307-314 9.Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U. Hyperleptinemia in children with autosomal recessive type I-III. PLoS One. 2017 Apr 6;12(4):e0175611 10.Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. Developing standardized treatment for Duchenne muscular dystrophy. Contemp Clin Trials. 2017 Jul;58:34-39. 11.Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol. 2017 Jul;16(7):513-522. 12.Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S. Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy. Neuromuscul Disord. 2017 Jul;27(7):631-634. 13.Della Marina A, Kölbel H, Müllers M, Kaiser O, Ismail M, Swierzy M, Rueckert JC, Schara U. Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis. Neuropediatrics. 2017 Aug;48(4):315-322 14.McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. in patients with Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Jul 17. Lancet . 2017 Sep 23;390(10101):1489-1498. 15.Schara U. Appropriate use of next generation sequencing facilities for identifying new genetic

29/12/2020 European Medicine Agency Page 2/9 causes of fetal akinesia deformation sequence (FADS). Eur J Paediatr Neurol. 2017 Sep;21(5):697-698. 16.Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D; Tadalafil DMD Study Group. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology. 2017 Oct 24;89(17):1811-1820 17.Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain. 2017 Nov 1;140(11):2838-2850 18.Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1723-1732 19.Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter MC, Müller-Felber W. Spinal muscular atrophy: Time for newborn screening? Nervenarzt. 2017 Dec;88(12):1358-1366 20.Mortari EP, Folgiero V, Marcellini V, Romania P, Bellacchio E, D'Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz D, Jungbluth H, Dionisi-Vici C, Carsetti R. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Autophagy. 2018;14(1):22-37 21.Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G, Wang SX, Campbell C; DEMAND III study group. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, , in Duchenne muscular dystrophy. Neuromuscul Disord. 2018 Jan;28(1):4-15

22.Aartsma-Rus A, Ferlini A, McNally EM, Spitali P, Sweeney HL; workshop participants. 226th ENMC International Workshop: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands. Neuromuscul Disord. 2018 Jan;28(1):77-86 23.Allenbach Y, Mammen AL, Stenzel W, Benveniste O; Immune-Mediated Necrotizing Myopathies Working Group. 224th ENMC International Workshop: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016. Neuromuscul Disord. 2018 Jan;28(1):87-99 24.Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.N Engl J Med. 2018 Feb 15;378(7):625-635. 25.Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T; HEAD Study group, Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z.Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. Seizure. 2018 Feb 3;56:115-120. 26. Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J. Evaluation of Children with

29/12/2020 European Medicine Agency Page 3/9 SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany. J Neuromuscul Dis. 2018;5(2):135-143. 27.Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10;19(1):291. 28.Hinze CH, Oommen PT, Dressler F, Urban A, Weller-Heinemann F, Speth F, Lainka E, Brunner J, Fesq H, Foell D, Müller-Felber W, Neudorf U, Rietschel C, Schwarz T, Schara U, Haas JP. Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria.Pediatr Rheumatol Online J. 2018 Jun 25;16(1):40. 29.Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group.Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7) 30.Schara U, Fink GR, von Moers A. Transition from neuropediatrics to neurology in neuromuscular diseases.Nervenarzt. 2018 Oct;89(10):1123-1130.Review 31.Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Neurology. 2018 Sep 25;91(13) 32.Tacke M, Rupp N, Gerstl L, Heinen F, Vill K, Bonfert M, Neubauer BA, Bast T, Borggraefe I; Further Members of the German HEAD Study Group. Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology. Acta Neurol Scand. 2018 Dec;138(6):475-481

33.Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U.Characteristic clinical and ultrastructural findings in nesprinopathies. Eur J Paediatr Neurol. 2019 Mar;23(2):254-261 34.Pechmann A, König K, Bernert G, Schachtrup K, Schara U, Schorling D, Schwersenz I, Stein S, Tassoni A, Vogt S, Walter MC, Lochmüller H, Kirschner J.SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.Orphanet J Rare Dis. 2019 Jan 21;14(1):18

35.Wong SC, Straub V, Ward LM, Quinlivan R; 236th ENMC workshop participants.236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 2018.Neuromuscul Disord. 2019 Mar;29(3):251-259 36.Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.X-linked myotubular myopathy: A prospective international natural history study.Neurology. 2019 Apr 16;92(16):e1852-e1867 37.Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Müller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schröder R; German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network.Effect and safety of treatment with ACE-inhibitor Enalapril and -blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.Orphanet J

29/12/2020 European Medicine Agency Page 4/9 Rare Dis. 2019 May 10;14(1):105. 38.Conrado DJ, Larkindale J, Berg A, Hill M, Burton J, Abrams KR, Abresch RT, Bronson A, Chapman D, Crowther M, Duong T, Gordish-Dressman H, Harnisch L, Henricson E, Kim S, McDonald CM, Schmidt S, Vong C, Wang X, Wong BL, Yong F, Romero K; Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC). Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.J Pharmacokinet Pharmacodyn. 2019 May 24[Epub ahead of print] 39.Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U.Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.Front Neurol. 2019 May 7;10:470. 40.Ambrosini A, Quinlivan R, Sansone VA, Meijer I, Schrijvers G, Tibben A, Padberg G, de Wit M, Sterrenburg E, Mejat A, Breukel A, Rataj M, Lochmüller H, Willmann R; 235th ENMC workshop study group."Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.Orphanet J Rare Dis. 2019 Jun 7;14(1):126. 41.Geis T, Rödl T, Topalolu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.Orphanet J Rare Dis. 2019 Jul 16;14(1):179. 42.Preuße C, von Moers A, Kölbel H, Pehl D, Goebel HH, Schara U, Stenzel W.Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.Neuromuscul Disord. 2019 Jul;29(7):487-496. 43.Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.Brain. 2019 Aug 1;142(8):2230-2237. 44.O Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. One year of newborn screening for SMA - Results of a German pilot project.J Neuromuscul Dis. 2019;6(4):503-515. 45.McDonald CM, Sajeev G, Yao Z, McDonnell E, Elfring G, Souza M, Peltz SW, Darras BT, Shieh PB, Cox DA, Landry J, Signorovitch J; ACT DMD Study Group; Tadalafil DMD Study Group.Deflazacort versus prednisone treatment for Duchenne muscular dystrophy: a meta-analysis of disease progression rates in recent multicenter clinical trials.Muscle Nerve. 2020 Jan;61(1):26-35. 46.Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J. Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.J Neuromuscul Dis. 2020;7(1):41-46. 47.Servais L, Straathof CSM, Schara U, Klein A, Leinonen M, Hasham S, Meier T, De Waele L, Gordish-Dressman H, McDonald CM, Mayer OH, Voit T, Mercuri E, Buyse GM; SYROS and CINRG DNHS Investigators.Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy.Neuromuscul Disord. 2020 Jan;30(1):5-16.

48.Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC.A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports misregulation as its pathomechanism.EBioMedicine. 2020 Jan;51:102587. 49.Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H.Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening -Opportunity or Burden?J Neuromuscul Dis. 2020;7(2):109-117. 50.Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M,

29/12/2020 European Medicine Agency Page 5/9 von Moers A, Stoltenburg C, Saffari A, Walter MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J. Recommendations for of spinal muscular atrophy with -AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM). Nervenarzt. 2020 Jun;91(6):518-529. 51.Koch C, Buono S, Menuet A, Robé A, Djeddi S, Kretz C, Gomez-Oca R, Depla M, Monseur A, Thielemans L, Servais L; NatHis-CNM Study Group, Laporte J, Cowling BS. Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients. Mol Ther Methods Clin Dev. 2020 May 4;17:1178-1189.

52.Kölbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst DO, Schara U. First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Hum Mutat. 2020 Jun 9. Ahead of print 53.Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 Jun 11 Ahead of print

54.Blaschek A, Vill K, Müller-Felber W, Schara U. [Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):891-897. 55.Roos A, Hathazi D, Schara U. Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases. Methods Mol Biol. 2020;2169:197-216. 56.Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, Visser M de, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A.The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series.Neurology. 2020 Sep 15;95(11):e1512-e1527. 57.Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F; PTC124-GD-007-DMD Study Group; ACT DMD Study Group; Clinical Evaluator Training Groups. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.J Comp Eff Res. 2020 Oct;9(14):973-984. 58.Jorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andrés Nascimento, Carlos Ortez, Giacomo Pietro Comi, Leroy Ten Dam, Marianne De Visser, A J van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuß, Nicoline Løkken, Jesper Helbo Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, Bjarne Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sarkozy, Omar Abdel-Mannan, Alicia Alonso-Jimenez, Kristl G Claeys, David Gomez-Andrés, Francina Munell, Laura Costa-Comellas, Jana Haberlová, Marie Rohlenová, De Vos Elke, Jan L De Bleecker, Cristina Dominguez-González, Giorgio Tasca, Claudia Weiss, Nicolas Deconinck, Roberto Fernández-Torrón, Adolfo López de Munain, Ana Camacho-Salas, Béla Melegh, Kinga Hadzsiev, Lea Leonardis, Blaz Koritnik, Matteo Garibaldi, Juan Carlos de Leon-Hernández, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Díaz-Manera.New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.Brain. 2020 Sep 1;143(9):2696-2708.

29/12/2020 European Medicine Agency Page 6/9 59.Neuhaus SB, Wallgren-Pettersson C, Bönnemann CG, Schara U, Servais L; nemaline working group.250th ENMC International Workshop: readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. Neuromuscul Disord 2020 Aug 15;S0960-8966(20)30553-8Neuromuscul Disord. 2020 Oct;30(10):866-875. 60.Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RD, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattmann A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency EMBO J. 2020 Dec 1;39(23):e105364. 61.Janisch M, Boehme K, Thiele S, Bock A, Kirschner J, Schara U, Walter MC, Nolte-Buchholtz S, von der Hagen M.Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients' perspective. Neuromuscul Disord. 2020 Dec;30(12):975-985.

Projects Leading Investigator (Germany) in the multicenter study A Phase III Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in 10 18 Year Old Patients with Duchenne Muscular Dystrophy The aim of this study is to assess the efficacy of idebenone, compared to placebo, in improving or delaying the loss of respiratory function in patients with DMD. Investigator in the multicenter study A phase II, double blind, exploratory, parallel-group, placebo-controlled clinical study to assess two dosing regimens of GSK2402968 for efficacy, safety, tolerability and pharmacokinetics in ambulant subjects with Duchenne muscular dystrophy. Leading Investigator (Germany) in the multicenter study A randomised, double-blind, placebo-controlled clinical study to assess the efficacy and safety of GSK2402968 in ambulant subjects with Duchenne muscular dystrophy. Investigator in the multicenter study Phase II, multicenter, randomized, adaptive, double-blind, placebo controlled study to assess safety and efficacy of olesoxime (TRO19622) in 3-25 year old Spinal Muscular Atrophy (SMA) types II and III patients. Leading Investigator (Germany) in the multicenter study An open-label extension study of the long-term safety, tolerability and efficacy of GSK2402968 in subjects with Duchenne Muscular Dystrophy. Investigator in the multicenter study A prospective Natural History study of the progression of physical impairment, activity limitation and quality of life in Duchenne Muscular Dystrophy PRO-DMD-01. Leading Investigator in the multicenter GSK / Prosensa study DMD114349 A follow-up open-label clinical study to assess the efficacy and safety of GSK2402968 in ambulant subjects with Duchenne muscular dystrophy. Investigator in the multicenter study An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients with Nonsense Mutation Dystrophinopathy. (PTC124-GD-019-DMD) Investigator in the multicenter study A Phase 3 Efficacy and Safety Study of Ataluren (PTC124®) in Patients with Nonsense Mutation Dystrophinopathy (PTC124-GD-020-DMD) Investigator in the multicenter study FOR-DMD - Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen. Investigator in the multicenter study A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy. Leading Investigator in the multicenter study A Phase 3 extension study of Ataluren (PTC124) in patients with nonsense mutation dystrophinopathy (PTC124-GD-020e-DMD). Investigator in the multicenter study A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of IONIS 396443 Administered Intrathecally in Patients with Later-onset Spinal Muscular Atrophy (ISIS 396443-CS4). Investigator in the multicenter study A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of IONIS 396443 Administered Intrathecally in Patients with Infantile-onset Spinal Muscular Atrophy (ISIS 396443-CS3B).

29/12/2020 European Medicine Agency Page 7/9 Investigator in the multicenter study Prospective, Longitudinal study of the Natural History and functional status of patients with Myotubular Myopathy (NatHis-MTM). Investigator in the multicenter study Prospective Study of the Natural History of patients with type 2 and 3 Spinal Muscular Atrophy (NatHis-SMA). Investigator in the multicenter study Multicenter, Open-Label, Single Arm Study to evaluate Long-Term Safety, Tolerability and Effectiveness of 10 mg/kg Olesoxime in Patients with SMA (BN29854). Investigator in the multicenter study Long-Term Observational Study of TranslanaTM Safety and Effectiveness in Usual Care (PTC 124-GD-025o-DMD). Investigator in the multicenter study Open-label Extension Study for patients with spinal muscular atrophy who previously participated in investigational studies of ISIS396443 Administered Intrathecally in Patients with Later-onset Spinal Muscular Atrophy (ISIS 396443-CS11)

Investigator in the multicenter study A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone (Drug) in Patients with Duchenne Muscular Dystrophy Receiving Glucocorticoid steroids (SIDEROS)

Investigator in the multicenter study A Double-Blind, Placebo-Controlled, Multicenter Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy.

Investigator in the multicenter study A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys with Duchenne Muscular Dystrophy.

Investigator in the multicenter study A Phase 3, randomized, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of UX007 in the treatment of movement disorders associated with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS).

Investigator in the multicenter study Randomised, double blind, placebo controlled multicentre study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne Muscular Dystrophy. Investigator in the Retrospective Cohort Study assessing the Long-Term Respiratory Function Evolution during Idebenone Treatment compared to Idebenone-free Periods in Patients with Duchenne Muscular Dystrophy who Completed the DELOS Study (SYROS).

Investigator in the multicenter study " Tamoxifen in Duchenne muscular dystrophy: A multicenter, randomised, double-blind, placebo-controlled, phase 3 safety and efficacy 48-week trial".

Investigator in the open label study to investigate the safety, tolerability and pharmacokinetics/ pharmacodynamics of RO7034067 in adult and pediatric patients with spinal muscular atrophy. Principal investigator in the Natural History Study in Patients with Duchenne Muscular Dystrophy Managed in Routine Clinical Practice.(Sarepta) Principal investigator in the Phase 1/ 2 trial on the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of DYN101 in patients > 16 of age with centronuclear myopathies caused by mutations in DNM 2 or MTM1.

Memberships German Speaking Society of Neuropediatrics European Society of Pediatric Neurology World Muscle Society Deutsche Gesellschaft für Kinderheilkunde und Jugendmedizin Gesellschaft für klinische Neurophysiologie und funktionelle Bildgebung Deutsche Gesellschaft für Muskelerkrankungen

29/12/2020 European Medicine Agency Page 8/9 Deutsche Sektion der internationalen Liga gegen Epilepsie (ILAE) Membership in Brains Trust / Networks President of the German Speaking Society of Neuropediatrics Vice president of the German Brain Council Chair of the Ethics Committee of the Medical Faculty DuisburgEssen MD Net e.V.: German Muscular Dystrophy Network TREAT NMD: European Excellence Network for rare hereditary neuromuscular disorders TREAT-NMD Advisory Committee for Therapeutics (TACT), within the framework of TREAT NMD Scientific advisory board Deutsche Myasthenie Gesellschaft Management of clinical trials of MD-Net e. V. Member of the European Reference Network for neuromuscular disorders in childhood and adolescence (ERN EURO-NMD) Board member of Neuromuscular Disorders, Journal of the World Muscle Society Board member of EJPN, Journal of the European Society of Pediatric Neurology

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