Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping (pre U7-53)
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ClinicalTrials.gov Identifier: NCT01385917
Recruitment Status : Unknown
Verified March 2016 by Genethon. Recruitment status was: Recruiting
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.
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.
Biospecimen Retention: None Retained
Total blood count with differential leukocyte count Assay of immunoglobulins and the various sub-classes (IgG, IgM, IgA, IgE) Test for immunisation against all AAV serotypes Serum urea, creatinine, AST/ALT , GammaGT, bilirubin, CK, alkalin phosphatase
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Ages Eligible for Study:
12 Years to 20 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients with theoretically exon 53 skipping-treatable DMD
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.
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.