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. It is characterized by weakness in the muscles used for movement and affects the ability to sit, stand, walk and breathe.
Researchers at the Wake Forest Institute for Regenerative Medicine (WFIRM) 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.
Research Significance
There is currently no cure for myotubular myopathy.
Research Approach and Goals
The ultimate goal is to develop a treatment for myotubular myopathy that can be tested in human patients.
Research Highlights and Innovation
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, myotubularin.
Collaborations
The work, in collaboration with Généthon, is funded by the French Muscular Dystrophy Association, the Joshua Frase Foundation, the U.S. Muscular Dystrophy Association and others.
In addition to Wake Forest and Généthon, other researchers collaborating include:
- Children's Hospital Boston and Harvard Medical School
- Fred Hutchinson Cancer Center in Seattle
- Virginia Polytechnic Institute in Blacksburg, Virginia