Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

Study of Clinical and Radiological Changes in Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

PreU7-53 is a natural history study. The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with Duchenne Muscular Dystrophy (DMD), potentially treatable with AAV-mediated exon 53 skipping.

Inclusion Criteria:

• Diagnosis of Duchenne muscular dystrophy confirmed by at least genetic testing, theoretically treatable by exon 53 skipping.
• Age between ≥ 12 and <20 years old.
• Non ambulant patients (i;e; inability to walk more than 10 meters without any of assistance).
• Patients covered by a national health insurance scheme.
• Signed informed consent.

Exclusion Criteria:

• Patient incapable of sitting upright in a wheelchair for at least one hour.
• Patients with severe intellectual impairment preventing them from fully understanding the exercises to be performed.
• Recent (less than 6 months ago) upper limb surgery or trauma This criteria is however no definitive. Patients who have undergone upper limb surgery or trauma may nonetheless be enrolled once the 6 month period is over.
• Known immune deficiency.
• Contraindications to NMR exams