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

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ClinicalTrials.gov Identifier: NCT01385917
Recruitment Status : Unknown
Verified March 2016 by Genethon.
Recruitment status was:  Recruiting
First Posted : June 30, 2011
Last Update Posted : April 12, 2016
Sponsor:
Collaborator:
Institute of Myology
Information provided by (Responsible Party):
Genethon

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.

Condition or disease
Duchenne Muscular Dystrophy

Study Type : Observational
Estimated Enrollment : 45 participants
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
Study Start Date : October 2011
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018





Primary Outcome Measures :
  1. 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.


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


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Ages Eligible for Study:   12 Years to 20 Years   (Child, Adult)
Sexes 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 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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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         
United Kingdom
Great ormond Street Hospital & University College London Hospital Recruiting
London, United Kingdom, WC1N 1EH
Contact: Francesco Muntoni, Pr, HD    +44 1 02079052111    f.muntoni@ich.ucl.ac.uk   
Sponsors and Collaborators
Genethon
Institute of Myology
Investigators
Principal Investigator: Laurent SERVAIS, MD Myology Institute

Responsible Party: Genethon
ClinicalTrials.gov Identifier: NCT01385917     History of Changes
Other Study ID Numbers: GHN007.10
First Posted: June 30, 2011    Key Record Dates
Last Update Posted: April 12, 2016
Last Verified: March 2016

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

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