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

Tracking Information
First Received Date ^ICMJE	June 29, 2011
Last Updated Date	June 29, 2011
Start Date ^ICMJE	July 2011
Estimated Primary Completion Date	December 2015 (final data collection date for primary outcome measure)
Current Primary Outcome Measures ^ICMJE	Not Provided
Original Primary Outcome Measures ^ICMJE	Not Provided
Change History	No Changes Posted
Current Secondary Outcome Measures ^ICMJE	Not Provided
Original Secondary Outcome Measures ^ICMJE	Not Provided
Current Other Outcome Measures ^ICMJE	Not Provided
Original Other Outcome Measures ^ICMJE	Not Provided

Descriptive Information
Brief Title ^ICMJE	Observational Study of Teenagers With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping
Official Title ^ICMJE	Study of Clinical and Radiological Changes in Teenagers With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping
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.
Detailed Description	Not Provided
Study Type ^ICMJE	Observational
Study Design ^ICMJE	Observational Model: Cohort Time Perspective: Prospective
Target Follow-Up Duration	Not Provided
Biospecimen	Retention: Samples With DNA Description: 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
Sampling Method	Non-Probability Sample
Study Population	Patients with theoretically exon 53 skipping-treatable DMD
Condition ^ICMJE	Duchenne Muscular Dystrophy
Intervention ^ICMJE	Not Provided
Study Group/Cohort (s)	Not Provided
Publications *	Not Provided
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information
Recruitment Status ^ICMJE	Not yet recruiting
Estimated Enrollment ^ICMJE	20
Estimated Completion Date	December 2015
Estimated Primary Completion Date	December 2015 (final data collection date for primary outcome measure)
Eligibility Criteria ^ICMJE	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.
Gender	Male
Ages	6 Years to 15 Years
Accepts Healthy Volunteers	No
Contacts ^ICMJE	Not Provided
Location Countries ^ICMJE	Not Provided

Administrative Information
NCT Number ^ICMJE	NCT01385917
Other Study ID Numbers ^ICMJE	GHN007.10
Has Data Monitoring Committee	No
Responsible Party	Geraldine Honnet, Clinical Development Director, Genethon
Study Sponsor ^ICMJE	Genethon
Collaborators ^ICMJE	Institute of Myology
Investigators ^ICMJE	Not Provided
Information Provided By	Genethon
Verification Date	June 2011
^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP

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