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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by Genethon
Sponsor:
Collaborator:
Institute of Myology
Information provided by (Responsible Party):
Genethon
ClinicalTrials.gov Identifier:
NCT01385917
First received: June 29, 2011
Last updated: September 30, 2013
Last verified: September 2013
  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:


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:   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


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 <20 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.
  • Known immune deficiency.
  • Contraindications to NMR exams
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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: September 30, 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 Dystrophies
Muscular Dystrophy, Duchenne
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on October 20, 2014