Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping
- Conditions
- Duchenne Muscular Dystrophy
- Registration Number
- NCT01385917
- Lead Sponsor
- Genethon
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- Male
- Target Recruitment
- 45
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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method PreU7-53 is a natural history study Every year The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with DMD, potentially treatable with AAV-mediated exon 53 skipping.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Great ormond Street Hospital & University College London Hospital
🇬🇧London, United Kingdom
Myology Institute
🇫🇷Paris, France