Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

NCT ID: NCT01385917

Last Updated: 2016-04-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

45 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-10-31

Study Completion Date

2018-12-31

Brief Summary

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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

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Conditions

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Duchenne Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

12 Years

Maximum Eligible Age

20 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Institute of Myology

OTHER

Sponsor Role collaborator

Genethon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Laurent SERVAIS, MD

Role: PRINCIPAL_INVESTIGATOR

Myology Institute

Locations

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Myology Institute

Paris, , France

Site Status RECRUITING

Great ormond Street Hospital & University College London Hospital

London, , United Kingdom

Site Status RECRUITING

Countries

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France United Kingdom

Facility Contacts

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Laurent Servais, MD

Role: primary

01 42 16 66 47

Francesco Muntoni, Pr, HD

Role: primary

+44 1 02079052111

Other Identifiers

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GHN007.10

Identifier Type: -

Identifier Source: org_study_id

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