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

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

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

Brief 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).

Detailed Summary:
Sponsor: Genethon

Current Primary Outcome: Number of patients with adverse events or general or local signs as a measure of clinical safety [ Time Frame: 6 months ]

Standard general and local clinical examination as well as vital signs assessement, including pain, local inflammation, stiffness and fatigability.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Number of patients with modified biological values (blood count, standard biochemistry, viral serology) [ Time Frame: 6 months ]

    Assessment of biological tolerance:

    • blood count
    • standard biochemistry
    • CPK viral serology (hepatitis B & C)
  • number of patients with changed or increased humoral immunity to AAV [ Time Frame: 6 months ]
    assessment of anti-AAV antibodies titers
  • Number of patients with changed/increased humoral immunity to transgene [ Time Frame: 6 months ]
    assessment of anti-gamma-sarcoglycan antibodies titers
  • Number of patients with changed/increased cellular immunity to AAV [ Time Frame: 6 months ]
    assessment cellular immunity against AAV (ELispot assay)
  • Number of patients with changed/increased cellular immunity to transgene [ Time Frame: 6 months ]
    assessment cellular immunity against gamma-sarcoglycan (ELispot assay)
  • number of patients with positively stained muscular fibers to gamma-sarcoglycan protein [ Time Frame: 30 days ]
    Muscular biopsy immunohistaining for the detection of gamma-sarcoglycan
  • Number of patients with modified/decreased muscular force [ Time Frame: 6 months ]
    functional testing of treated muscle through a specially designed ergometer


Original Secondary Outcome: Same as current

Information By: Genethon

Dates:
Date Received: March 17, 2011
Date Started: November 2006
Date Completion:
Last Updated: April 28, 2011
Last Verified: April 2011