New Development of Treatment for Myotubular Myopathy Initiated by Joshua Frase Foundation

The Joshua Frase Foundation, a Jacksonville-based nonprofit, announces its collaboration with Généthon, a French biotherapy lab, and Wake Forest University School of Medicine, to further a groundbreaking new gene therapy for Myotubular Myopathy.
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June 15, 2011 - PRLog -- JACKSONVILLE, Fla.  – The Joshua Frase Foundation, a Jacksonville- and Boston-based nonprofit, announces their collaboration with Généthon, a French biotherapy lab, and Wake Forest University School of Medicine, to further the development of a groundbreaking new gene therapy for Myotubular Myopathy (MTM).

MTM is the most common and severe form of centro-nuclear myopathy, an inherited muscle disease.  It is caused by defects in or deficiencies of functional myotubularin, a protein thought to promote normal muscle development.  MTM affects skeletal muscles and leads to respiratory failure from birth.

Généthon /INSERM researcher Dr. Anna Buj-Bello has been working on mouse models of MTM for many years, to understand the disease mechanism and design therapeutic strategies.  Buj-Bello’s research group has developed an adeno-associated virus (AAV) vector for transferring a healthy copy of the myotublarian gene into muscle cells.

The collaboration of Dr.Buj-Bello and Genethon will test a groundbreaking approach in the canine disease model characterized by Dr. Alan Beggs, professor of pediatrics at Children’s Hospital Boston and Harvard Medical School, working together with Martin Childers, D.O., Ph.D., professor in the Department of Neurology at The Wake Forest Institute for Regenerative Medicine.  For the first time ever, a colony of dogs with MTM has been established at Wake Forest. Dr. Beggs and Dr. Childers will work with Généthon, who will transfer its method for local-regional perfusion of AAV vectors, supply expert advice and produce the batches of myotubularin vectors to be used for a preclinical trial of gene therapy in the United States.  

Two other researchers from the Fred Hutchinson Cancer Research Center in Seattle, WA, have dedicated time and resources to this important effort.  Dr. Rainer Storb, Head of Transplantation Biology and professor at University of Washington School of Medicine, is examining the potential of stem cells for regenerating muscle cells in the canine model.  Dr. Zejing Wang, research assistant professor and associate in clinical research, is currently studying immune responses to AAV vectors in canines, addressing immune responses and advising on immunosuppressive drugs.

This unique transatlantic collaboration will help researchers understand mechanisms involved in the disease and complement the data generated in mice. If the results are confirmed in preclinical trials with the dogs, the therapy could then be clinically tested in humans. This groundbreaking science will potentially benefit human and veterinary medicine worldwide.  Development of a treatment could eradicate numerous muscle diseases.

“Myotubular Myopathy is an extremely severe muscle disease and we urgently need a treatment. The AFM [French Muscular Dystrophy Association] is delighted with the collaboration between its operational arm, Généthon, Wake Forest and Children’s Hospital Boston.  With positive results in clinical trials, MTM patients and their families should ultimately gain significant benefit from this work,” added Laurence Tiennot-Herment, Chairperson of AFM and Généthon.

Through its international outreach and fundraising efforts, The Joshua Frase Foundation is responsible for initiating the collaboration of Généthon, Wake Forest University School of Medicine and Children’s Hospital Boston. Over the last 10 years, Joshua Frase Foundation has raised nearly $6 million and supported many key discoveries that have been published and disseminated to the greater medical and scientific community.  Most recently, the Muscular Dystrophy Association (MDA) and the AFM funded a $738,730 grant to Wake Forest University professor Martin Childers to test a promising potential treatment for X-linked MTM.  

The Joshua Frase Foundation is named for Joshua Frase, the son of 11-year NFL veteran Paul Frase and his wife, Alison.  Josh lost his valiant battle with MTM, at age 15, when he died on December 24, 2010.  A bright, accomplished student at Ponte Vedra High School, Joshua was one of 400 children in the world afflicted with MTM.  Joshua’s impact remains a beacon of hope to affected families worldwide.

For more information or to make a donation to the Joshua Frase Foundation, please visit

For schedule interviews and gain additional information please contact Amy Walter at 904.403.8574.

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