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Queen Square Centre for Neuromuscular Diseases

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Study of clinical and radiological changes in teenagers with Duchenne muscular dystrophy theoretically treatable with exon 53 skipping (Pre-U7-53)

Sponsor / Funder Genethon
CI Professor Francesco Muntoni, Professor Volker Straub
Sites London GOSH, Newcastle
Contact details ich.neuromusculartrials@ucl.ac.uk
More information

This is a natural history study. This study will recruit DMD patients who are treatable with AAV-mediated exon 53 skipping.

Objectives

  • to monitor the clinical and radiological course of arm muscles impairment in those patients
  • to assess serum and urine biomarkers to monitor non-invasively disease progression
  • and to assess prevalence of immunity against adenoviral vectors in these patients