Accepted for Publication: August 27, 2013.
Published Online: November 11, 2013. doi:10.1001/jamaneurol.2013.4908.
Study concept and design: Anthony, Arechavala-Gomeza, Ricotti, Torelli, Feng, Bushby, Morgan, Muntoni.
Acquisition of data: Anthony, Arechavala-Gomeza, Ricotti, Torelli, Feng, Janghra, Tasca, Guglieri, Barresi, Armaroli, Bushby, Straub, Ricci, Muntoni.
Analysis and interpretation of data: Anthony, Arechavala-Gomeza, Ricotti, Torelli, Janghra, Tasca, Ferlini, Sewry, Morgan, Muntoni.
Drafting of the manuscript: Anthony, Arechavala-Gomeza, Ricotti, Feng, Armaroli, Morgan, Muntoni.
Critical revision of the manuscript for important intellectual content: Anthony, Arechavala-Gomeza, Ricotti, Torelli, Janghra, Tasca, Guglieri, Barresi, Ferlini, Bushby, Straub, Ricci, Sewry, Morgan, Muntoni.
Statistical analysis: Anthony.
Obtained funding: Ferlini, Straub, Morgan, Muntoni.
Administrative, technical, or material support: Arechavala-Gomeza, Feng, Janghra, Barresi, Armaroli, Sewry.
Study supervision: Anthony, Ricotti, Ferlini, Bushby, Straub, Morgan, Muntoni.
Conflict of Interest Disclosures: Dr Ferlini is principal investigator of 2 ongoing DMD AO clinical trials (GlaxoSmithKline DMD114349 and Prosensa PRO044). Dr Bushby has served on scientific advisory boards for Acceleron, Amsterdam Molecular Therapeutics, AVI BioPharma, Debiopharm Group, Genzyme, GlaxoSmithKline, Prosensa, PTC Therapeutics, and Santhera Pharmaceuticals and has received funding for trials from AVI BioPharma and PTC Therapeutics. Dr Straub is a member of the scientific advisory boards of Genzyme, Acceleron, and Prosensa; has delivered lectures for Genzyme for which Newcastle University receives remuneration; and has received funding for a trial from GlaxoSmithKline. Dr Muntoni has served on scientific advisory boards for Acceleron Pharma, Genzyme, AVI BioPharma, Debiopharma Group, GlaxoSmithKline, Prosensa, Servier, and Santhera Pharmaceutical; serves on the editorial boards of Neuromuscular Disorders and Neuropediatrics; receives research support from the European Union, the Medical Research Council, the Wellcome Trust, the Association Française contre les Myopathies, the Muscular Dystrophy Campaign, the Great Ormond Street Hospital Biomedical Research Centre, and the Muscular Dystrophy Association; is receiving funding for trials from GlaxoSmithKline, Trophos, and the British Heart Foundation; and has received funding for trials from AVI BioPharma and PTC Therapeutics. No other disclosures were reported.
Funding/Support: Drs Anthony and Ricotti are supported by the Association Française contre les Myopathies. Dr Arechavala-Gomeza is supported by Health Innovation Challenge Fund HICF-1009-025 from the Wellcome Trust. Dr Morgan is supported by a Wellcome Trust University Award. Dr Muntoni is supported by the Great Ormond Street Hospital Children’s Charity.
Role of the Sponsor: The funding organizations had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; or preparation, review, or approval of the manuscript.
Additional Contributions: We thank the participating subjects and their families, the Muscular Dystrophy Campaign, Action Duchenne, and the Duchenne Family Support Group for participating in the UK MDEX Consortium (http://www.mdex.org.uk), which performed this study. We also gratefully acknowledge the support of the Duchenne Parent Project, Italy (DMD/BMD National Registry) and the TREAT-NMD Neuromuscular Network. Darren Chambers, BSc, assisted with immunohistochemistry, the Great Ormond Street Hospital Biomedical Research Centre and the MRC Neuromuscular Centre supported the biobank, and Glenn Morris, PhD, and the MDA Monoclonal Antibody Resource supplied the MANDYS106 and MANEX50 antibodies.