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

This study is not yet open for participant recruitment.
Verified June 2011 by Genethon
Sponsor:
Collaborator:
Institute of Myology
Information provided by:
Genethon
ClinicalTrials.gov Identifier:
NCT01385917
First received: June 29, 2011
Last updated: NA
Last verified: June 2011
History: No changes posted
  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.


Condition
Duchenne Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Study of Clinical and Radiological Changes in Teenagers With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Genethon:

Biospecimen Retention:   Samples With DNA

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 and AST/ALT Proteomic and transcriptomic profile (biomarkers of disease progression) Urine miRonic profile Verification of eligibility for exon 53 skipping therapy, by genotyping


Estimated Enrollment: 20
Study Start Date: July 2011
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   6 Years to 15 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with theoretically exon 53 skipping-treatable DMD

Criteria

Inclusion Criteria:

  • Diagnosis of Duchenne muscular dystrophy confirmed by genetic testing and a muscle biopsy (dystrophin expression < 5%), theoretically treatable by exon 53 skipping.
  • Age between 6 and 15 years old.
  • Patient capable of sitting upright in a wheelchair for at least one hour.
  • 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.
  • Immunisation against AAV8.
  • Known immune deficiency.
  • None of the current treatments for Duchenne muscular dystrophy (steroids, captopril, carnitine, idebenone, etc.) is an exclusion criterion.
  Contacts and Locations
No Contacts or Locations Provided
  More Information

No publications provided

Responsible Party: Geraldine Honnet, Clinical Development Director, Genethon
ClinicalTrials.gov Identifier: NCT01385917     History of Changes
Other Study ID Numbers: GHN007.10
Study First Received: June 29, 2011
Last Updated: June 29, 2011
Health Authority: France: Comité de Protection des Personnes

Keywords provided by Genethon:
Duchenne Muscular Dystrophy
strength and function tests
MRI

Additional relevant MeSH terms:
Muscular Dystrophy, Duchenne
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
 Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 23, 2013