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

This study is currently recruiting participants.
Verified June 2011 by Genethon
Sponsor:
Collaborator:
Institute of Myology
Information provided by (Responsible Party):
Genethon
ClinicalTrials.gov Identifier:
NCT01385917
First received: June 29, 2011
Last updated: June 10, 2013
Last verified: June 2011
History of Changes
  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 Patients 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:

Primary Outcome Measures:
  • PreU7-53 is a natural history study [ Time Frame: Every year ] [ Designated as safety issue: No ]
    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:   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: 35
Study Start Date: October 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 20 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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01385917

Locations
France
Myology Institute Recruiting
Paris, France
Contact: Laurent Servais, MD     01 42 16 66 47     l.servais@institut-myologie.org    
Principal Investigator: Laurent SERVAIS, MD            
Sponsors and Collaborators
Genethon
Institute of Myology
Investigators
Principal Investigator: Laurent SERVAIS, MD Myology Institute
  More Information

No publications provided

Responsible Party: Genethon
ClinicalTrials.gov Identifier: NCT01385917     History of Changes
Other Study ID Numbers: GHN007.10
Study First Received: June 29, 2011
Last Updated: June 10, 2013
Health Authority: France: Committee for the Protection of 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 June 17, 2013