About the Authors

Vandana Ayyar Gupta

Contributed equally to this work with: Vandana Ayyar Gupta, Jacqueline M. Pitchforth

Roles Conceptualization, Formal analysis, Investigation, Methodology, Project administration, Visualization, Writing – original draft

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Jacqueline M. Pitchforth

Contributed equally to this work with: Vandana Ayyar Gupta, Jacqueline M. Pitchforth

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Writing – original draft

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Joana Domingos

† Deceased.

Roles Conceptualization, Methodology

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Deborah Ridout

Roles Data curation, Formal analysis, Methodology, Visualization, Writing – review & editing

Affiliations Population, Policy & Practice Research and Teaching Department, UCL Great Ormond Street (GOS) Institute of Child Health, London, United Kingdom, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom

Mario Iodice

Roles Investigation, Project administration, Writing – review & editing

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Catherine Rye

Roles Investigation, Project administration, Writing – review & editing

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Mary Chesshyre

Roles Methodology, Project administration, Writing – review & editing

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Amy Wolfe

Roles Investigation, Project administration, Writing – review & editing

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Victoria Selby

Roles Methodology, Writing – review & editing

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Anna Mayhew

Roles Conceptualization, Methodology, Supervision, Writing – review & editing

Affiliation The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Elena S. Mazzone

Roles Conceptualization, Methodology, Writing – review & editing

Affiliation Child Neurology Unite Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy

Valeria Ricotti

Roles Conceptualization, Writing – review & editing

Affiliations UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom

Jean-Yves Hogrel

Roles Methodology, Writing – review & editing

Affiliation Institute of Myology, Paris, France

Erik H. Niks

Roles Writing – review & editing

Affiliations Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands, European Reference Network for Rare Neuromuscular Diseases – ERN EURO NMD

Imelda de Groot

Roles Writing – review & editing

Affiliation Department of Rehabilitation, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands

Laurent Servais

Roles Supervision, Writing – review & editing

Affiliations Institute of Myology, Paris, France, Division of Child Neurology, Reference Center for Neuromuscular Disease, Centre Hospitalier Régional de Références des Maladies Neuromusculaires, Department of Paediatrics, University Hospital Liège & University of La Citadelle, Liège, Belgium, Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, United Kingdom

Volker Straub

Roles Writing – review & editing

Affiliation The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Eugenio Mercuri

Roles Conceptualization, Writing – review & editing

Affiliations Child Neurology Unite Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy, Child Neurology Unit, Universita Cattolica del Sacro Cuore, Rome, Italy

Adnan Y. Manzur

Roles Conceptualization, Writing – review & editing

Affiliation UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom

Francesco Muntoni

Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Writing – review & editing

f.muntoni@ucl.ac.uk

Affiliations UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, United Kingdom, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom

on behalf of the iMDEX Consortium and the U.K. NorthStar Clinical Network

Membership of the iMDEX Consortium and the U.K. NorthStar Clinical Network is provided in the Acknowledgments.

Competing Interests

E.H.Niks report grants from Spieren voor Spieren, Duchenne Parent Project, ZonMW, AFM and PPMD. He has been site principal investigator for clinical trials conducted by BioMarin, GSK, Eli Lilly, Santhera Pharmaceuticals, Italfarmaco SpA, Roche Pharma, Reveragen, NS Pharma, Fibrogen, Sarepta, Alexion, Janssen and Argnx outside the submitted work. He also reports ad hoc consultancies for BioMarin, Summit, PTC therapeutics, WAVE Life Sciences, Edgewise, Epirium Bio, Janssen, Sarepta and Regenxbio. All reimbursements were received by the LUMC. No personal financial benefits were received. I.de Groot has received consulting and education fees from PTC Therapeutics, Santhera, Biomarin/Prosensa. J-Y.Hogrel has received consulting fees from Biogen, Sarepta, Minoryx and Roche. L.Servais has received consulting fees from Roche, Biogen, Avexis, Cytokinetics, Sarepta, Biomarin, Santhera, Servier, Biophytis and Dynacure. He is coordinating natural history studies funded by Valerion, Dynacure and Roche. A.Mayhew has received consulting fees from Roche, Novartis (Avexis), Biogen, Rehenxbio, PTC, BMS/Roche, Sarepta, Italfarmaco, Pfizer, Summit, Catabasis, Santhera, Vision, Mallinckrodt, Lysogen, Modis and Wave. V.Straub received speaker honoraria from Sanofi Genzyme and has participated in advisory boards for Audentes Therapeutics, Biogen, AveXis, Pharmaceuticals, Pfizer, Roche, Sanofi Genzyme, Sarepta Therapeutics, Summit Therapeutics and Wave Therapeutics. V.Ricotti is co-founder, EVP, CMO of DiNAQOR, and served as a consultant for Solid Biosciences and Antisense Therapeutics. F.Muntoni reports grants from Sarepta, grants from Wave, grants from PTC Therapeutics, personal fees from Avexis, Roche, Pfizer, Dyne Therapeutics, Sarepta, outside the submitted work. M.Chesshyre has had the costs associated with attending a conference (including travel, accommodation, conference fee, food and drink) funded by PTC Therapeutics. This does not alter our adherence to PLOS ONE policies on sharing data and materials.