Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C

Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C

NCT01344798•Genethon

Summary

The purpose of this trial is to study the evaluation of clinical safety and feasibility of gene therapy in patients with limb girdle muscular dystrophy type 2C (gamma-sarcoglycanopathy).

Eligibility

Age

15 - No limit years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•1. Confirmed diagnosis of LGMD 2C including:
•* Molecular analysis proving del525T mutation on γ-sarcoglycan gene (chromosome 13) at homozygous state
•* Muscle biopsy with immunohistochemical and/or Western blot analyses showing marked decrease or absence of γ-sarcoglycan staining in muscle, as well as a fibrosis assessment should be available. If not, an initial muscular biopsy may be performed during the pre-enrollment period
•2. Lower age limit of 15 years
•3. Males and females may be equally enrolled
•4. Adequate carpi radialis muscle bulk for muscle biopsy as assessed by examination. Subjects should be able to communicate with the investigation staff. They should be able to understand, to comply with and to perform all needed evaluations during the trial period, including muscle strength tests. Forearm muscle strength should be of at least 3+ as assessed through the British Medical Research Council (MRC) Manual Muscle Testing (MMT) scale.
•Subjects should also have already lost ambulation
•5. Subjects should be able and willing to return for follow up
•6. Subjects should be able and willing to give signed informed consent. For minor subjects, a signed informed consent will be given by legally authorized representative
•7. Eligible subjects belonging to a multiplex family should not be enrolled in the same cohort.

Exclusion Criteria

•1. Severity of disease and presence of ill-prognosis complications:
•* Severe respiratory dysfunction such as subjects with tracheostomy or forced vital capacity (FVC) \< 1000 ml and/or \< 30%;
•* Uncompensated heart failure;
•* An ejection fraction (EF) \< 30% as measured on either echocardiography or scintigraphy;
•* Severe rhythm disturbances and/or high degree conduction defect in the absence of a pacemaker insertion.
•2. Underlying conditions, diseases or active viral infections likely to increase risk of complications or to interfere with the investigational treatment:
•* contraindications for injections and muscle biopsies
•* Platelet count \< 100,000 / mm3
•* Total bilirubin \> 10 mg/l (\> 17 µmol/l)
•* Serum creatinin \> 110 µmol/l
+9 more criteria

Locations (1)

Hôpital Pitié-Salpêtrière

Paris, France

Key Dates

Start Date

November 1, 2006

Primary Completion Date

June 1, 2010

Completion Date

June 1, 2010

Last Updated

April 29, 2011

Enrollment

ACTUAL participants

Conditions

Limb Girdle Muscular Dystrophy Type 2CGamma-sarcoglycanopathy

Interventions

AAV1-gamma-sarcoglycan vector injection

BIOLOGICAL

Natural History Study in Patients With LGMDR5/2c

NCT06210672

Gamma-sarcoglycanopathy

View study

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: April 29, 2011Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

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