Duchenne Muscular Dystrophy
Conditions
Keywords
Duchenne Muscular Dystrophy, strength and function tests, MRI
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.
Interventions
None listed
Sponsors
Institute of Myology
Genethon
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
12 Years to 20 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
France, United Kingdom
Outcome results
None listed