LGMD Gene Therapy Trial Slated for Next Year

A clinical trial to evaluate the safety of a gene transfer procedure for patients with type 2D limb-girdle muscular dystrophy (LGMD2D), which is caused by a mutation in the gene for the alpha-sarcoglycan protein, is to begin in early 2007, under the auspices of the National Institutes of Health, MDA and Columbus (Ohio) Children’s Research Institute.

“This project really underlines our commitment to developing gene transfer as a therapeutic strategy for more than one kind of muscular dystrophy,” said Sharon Hesterlee, MDA’s vice president for Translational Research, referring to the gene therapy safety trial in Duchenne muscular dystrophy (DMD) now under way in Columbus.

In this new pilot study, headed by MDA research grantee Jerry Mendell, who also co-directs the MDA clinic at Children’s Hospital in Columbus, six patients ages 5 and older with LGMD2D will receive alpha-sarcoglycan gene injections into a lower leg muscle and sham injections into the corresponding muscle on the other leg. (Neither the trial participants nor the investigators will know which leg received the genes until after the results have been analyzed.)

Physicians and other experts will evaluate the safety of the procedure, the amount of alpha-sarcoglycan protein produced in the injected cells, and any changes in strength, over the course of the three-month study.

Columbus Children’s Research Institute will screen adults and children with LGMD, using a blood sample, to see if they have an alpha-sarcoglycan mutation. If a mutation is found and a suitable muscle sample isn’t available, prospective participants will undergo a muscle biopsy.

Testing prior to and during the trial will be conducted in Columbus, Ohio, but patients need not live nearby, Mendell said, noting that some financial assistance for travel may be available.

For information, contact Xiomara Rosales at CCRI at (614) 722-6961 or rosalesx@ccri.net; or Jerry Mendell at (614) 722-5615 or mendellj@ccri.net.