Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)

Plain-language summary

Limb girdle muscular dystrophy type 2D (LGMD2D) is a genetic muscle disease in which insufficient alpha-sarcoglycan protein causes muscle weakness that worsens over time. This study evaluated the safety and effectiveness of the gene transfer product rAAV1.tMCK.human-alpha-sarcoglycan. The Phase 1 trial enrolled participants with LGMD2D aged 5 and older who had enough preserved muscle for gene transfer.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 1

Status

Completed

Sponsor

Nationwide Children's Hospital

Intervention

rAAV1.tMCK.human-alpha-sarcoglycan- First cohort (LGMD2D Gene therapy-First cohort), Genetic: rAAV1.tMCK.human-alpha-sarcoglycan- Second cohort (LGMD2D Gene therapy- Second cohort)

Start date

3/1/2008

Estimated completion

8/1/2011

Countries

United States

Locations

• Columbus, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Six LGMD2D subjects ages 5 and older based on the clinical degree of involvement (impaired muscle function/weakness, sufficient muscle preservation)
* Preservation of EDB muscle or another muscle if judged more favorable because of adequate muscle mass for gene transfer
* Males and females of any ethnic group
* Established mutations of an -SG gene on both alleles
* Ability to cooperate for testing
* Sexually active patients must be willing to practice a reliable method of contraception during the study

Exclusion Criteria:

* Active viral infection (symptoms listed in section 9.0 of the protocol)
* LGMD2D subjects without weakness or functional loss
* Cardiomyopathy based on clinical exam and ECHO with ejection fraction less than 40%
* HIV infected
* Hepatitis A, B, or C infected
* Autoimmune diseases and immunosuppressive drugs (other than pulse methylprednisolone at time of gene transfer)
* Persistent leucopenia or leucocytosis (WBC less than or equal to 3.5 K/cu mm or at least 20.0 K/ cu mm) or neutrophils less than 1.5 K/ cu mm
* Concomitant illness or requirement for chronic drug treatment that in the opinion of the Principal Investigator creates unnecessary risks for gene transfer
* Pregnancy
* Abnormal laboratory values considered clinically significant
* Alcoholism (CAGE questionnaire), and laboratory tests such as GGT and MCV