Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping (pre U7-53)

Genethon

Status: Unknown

Conditions: Duchenne Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT01385917

GHN007.10

Details and patient eligibility

About

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.

Enrollment: 45 estimated patients

Sex: Male

Ages: 12 to 20 years old

Volunteers: No Healthy Volunteers

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