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Cell and Gene Therapies

Myotubular Myopathy

Children with myotubular myopathy, a rare, inherited disease, often require a ventilator and most do not reach adulthood. The condition affects an estimated one in 50,000 male newborns and is characterized by weakness in the muscles used for movement and affects the ability to sit, stand, walk and breathe.

While there is currently no cure, Institute researchers are part of a transatlantic collaboration evaluating the potential of using gene therapy to treat the condition. Martin "Casey" Childers DO, PhD., adjunct professor of regenerative medicine, leads the team that is currently testing the effects of gene transfer in animals with the disease.

The defective gene (MTM1) that causes myotubular myopathy was identified in 1996. Those who inherit the gene have defects in or deficiencies of functional myotubularin, a protein thought to promote normal muscle development.

A research group at Généthon, a not-for-profit biotherapy lab in France, developed a method for transferring a healthy copy of the myotubularin gene into muscle cells. Currently, Childer's team is testing the treatment in animals with the disease The treatment is administered by using a virus vector, a gene-delivery vehicle in which the genes for a virus are removed and replaced with the desired gene - in this case myotubularin.

The ultimate goal is to develop a treatment that can be tested in human patients.

The work, in collaboration with collaboration with a not-for-profit biotherapy lab, Généthon, is funded by the French Muscular Dystrophy Association, the Joshua Frase Foundation and the U.S. Muscular Dystrophy Association and others. 

Other researchers collaborating on the project, in addition to Wake Forest and Genethon, are at  Children's Hospital Boston and Harvard Medical School; the Fred Hutchinson Cancer Center in Seattle; and the Virginia Polytechnic Institute in Blacksburg, Va.

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Institute for Regenerative Medicine

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Last Updated: 09-30-2016
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