NCT00494195

Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)

Study Summary

Limb girdle muscular dystrophy type 2D (LGMD2D) is a genetic disease that affects skeletal muscle. Insufficient levels of the protein alpha-sarcoglycan result in muscle weakness that worsens over time. The purpose of this study is to evaluate the safety and effectiveness of gene therapy in treating children and adults with LGMD2D.

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Interventions

rAAV1.tMCK.human-alpha-sarcoglycan- First cohortGENETIC
The first cohort of subjects with LGMD2D (alpha-sarcoglycan deficiency) and proven mutations will undergo gene transfer with a minimum of three subjects enrolled into this cohort and will receive a total of 1.5 ml volume of study agent in two to six separate injections into the selected muscle (extensor digitorum brevis) or other muscle if more appropriate upon considering the individual patient. The dose will be 3.25 X 10 to the 11 vg in 1.5 ml. In each cohort, only one extremity will receive vector with transgene while the opposite extremity will be injected with placebo.
Genetic: rAAV1.tMCK.human-alpha-sarcoglycan- Second cohortGENETIC
The second cohort will receive the same dosis of 3.25 X 10 to the 11 vg in 1.5 ml delivered to muscle according to the same paradigm. In each cohort, only one extremity will receive vector with transgene while the opposite extremity will be injected with placebo.

Study Locations

FacilityCityStateCountry
The Research Institute at Nationwide Children's HospitalColumbusOhioUnited States

Official Trial Information

View on ClinicalTrials.gov

Data sourced from ClinicalTrials.gov. Last updated: April 14, 2026