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Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

key information

study id #: NCT01385917

condition: Duchenne Muscular Dystrophy

status: unknown

purpose:

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.

mechanism of action: No pharmaceutical intervention

results: https://clinicaltrials.gov/ct2/show/results/NCT01385917

last updated: March 28, 2019

study details

start date: October 2011

estimated completion: December 2018

size / enrollment: 45

primary outcomes:

  • 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.

inclusion criteria:

• Eligible Sexes:

• 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 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 contacts

sponsor: Genethon

contacts:
Laurent Servais (MD), 01 42 16 66 47, L.servais@institut-myologie.org;
Francesco Muntoni (Pr, HD), +44 1 02079052111, F.muntoni@ich.ucl.ac.uk

investigators: Laurent SERVAIS, MD

trial center locations: France, United Kingdom