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.
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