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

NCT01385917 | Unknown

• 1 other identifier: GHN007.10
• Study Type: observational
• Target: 45
• Locations: 2 countries
• Sites: 2

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.

Conditions

Duchenne Muscular Dystrophy

Keywords

Duchenne Muscular Dystrophy; strength and function tests; MRI

Outcome Measures

Primary Outcomes (1)

• 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 DMD, potentially treatable with AAV-mediated exon 53 skipping.

  Every year

Eligibility Criteria

• Age: 12 Years - 20 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with theoretically exon 53 skipping-treatable DMD

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Genethon: lead
• Institute of Myology: collaborator

Study Sites (2)

Myology Institute

Paris, France

RECRUITING

Great ormond Street Hospital & University College London Hospital

London, WC1N 1EH, United Kingdom

RECRUITING

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

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Laurent SERVAIS, MD

  Myology Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2011
• First Posted: June 30, 2011
• Study Start: October 1, 2011
• Primary Completion: December 1, 2018
• Study Completion: December 1, 2018
• Last Updated: April 12, 2016

Record last verified: 2016-03

Locations

FR (1); GB (1)