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

April 11, 2016 updated by: Genethon

Study of Clinical and Radiological Changes in Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

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.

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

45

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France
        • Recruiting
        • Myology Institute
        • Contact:
        • Principal Investigator:
          • Laurent Servais, MD
  • United Kingdom
      • London, United Kingdom, WC1N 1EH
        • Recruiting
        • Great Ormond Street Hospital & University College London Hospital
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

12 years to 20 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

Patients with theoretically exon 53 skipping-treatable DMD

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Every year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Genethon

Collaborators

Institute of Myology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2011

Primary Completion (Anticipated)

December 1, 2018

Study Completion (Anticipated)

December 1, 2018

Study Registration Dates

First Submitted

June 29, 2011

First Submitted That Met QC Criteria

June 29, 2011

First Posted (Estimate)

June 30, 2011

Study Record Updates

Last Update Posted (Estimate)

April 12, 2016

Last Update Submitted That Met QC Criteria

April 11, 2016

Last Verified

March 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GHN007.10

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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