PreU7-53
Observational study of patients with DMD theoretically treatable with exon skipping 53
Hub Summary
PreU7-53 is an observational cohort study. This natural history study is designed to monitor upper limb muscle impairment in patients potentially treatable with AAV-mediated exon skipping.
Study Number: NCT01385917
Description by Genethon
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.
Primary Outcome Measures
PreU7-53 is a natural history study [Time Frame: 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.
Can I take part?
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 (ie; 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 not 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
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Overall Trial Status
Trial complete
Trial complete
UK Locations
Trial Sponsor
Genethon
Genethon
Age
12-20
Mutation Specific
Mutation specific therapies,
Amenable to treatments with Exon 53 skipping
Muscle Biopsy
No Muscle Biopsy Required
Phase
Observational
Length Of Participation
TBC
Recruitment Target
45
Ambulatory
Non-ambulant
Therapeutic Category
Natural History