Gene therapy for neuromuscular diseases: Surprising lessons learned from dogs

Martin Childers, D.O., Ph.D., professor of PM&R, University of Washington, is joined by Carmen M. Terzic, M.D., Ph.D., chair of Mayo Clinic Physical Medicine and Rehabilitation, to discuss his gene therapy work. It began almost by accident in 2009 when Dr. Childers was introduced to the mother of a child with a rare disease called myotubular myopathy. The mother asked Dr. Childers about finding a dog that might have the disease. He agreed and she was able to find a dog with a rare mutation responsible for this disease in canines. French collaborators provided gene replacement medicine that allowed the testing in dogs with the disease.

They discovered that after a few weeks, dogs destined to die due to muscle and respiratory weakness completely recovered. It was a watershed moment in gene therapy. Through a partnership with a biotech company and the NIH, Dr. Childers and his team have been able to replicate this finding in a larger number of animals and find a dose that is effective and potentially curative. The hope is to use this research to help patients with myotubular myopathy, and it could begin in 2016.