Généthon (the not-for-profit biotherapy lab funded by the French Muscular Dystrophy Association (Association Française contre les Myopathies, AFM) with donations from France's annual Telethon) and Wake Forest University School of Medicine (Winston Salem, North Carolina, USA) announced this week that they are to collaborate on the preclinical development of a gene therapy for myotubular myopathy.
This rare genetic disease is a very severe congenital myopathy which affects skeletal muscles and leads to respiratory failure from birth. Généthon/INSERM researcher Dr Anna Buj Bello has been working on murine models of myotubular myopathy for many years, in order to understand the disease mechanism and design therapeutic strategies. Her research group has developed an adenoassociated virus (AAV) vector for transferring a healthy copy of the myotubularin gene into muscle cells.
The collaborative work will test this approach in a canine disease model characterized by Martin Childers, D.O., Ph.D., a professor in the Department of Neurology and the Institute for Regenerative Medicine at Wake Forest. Généthon will transfer its method for local-regional perfusion of AAV vectors, supply expert advice and produce the batches of vectors to be used in the work in the United States.This transatlantic collaboration will help the researchers to understand the mechanisms involved in the disease and complement the data generated in mice. If the results are confirmed in dogs, the therapy could then be clinically tested in humans. "We are very pleased to be working with Dr Childers' group at Wake Forest. The great match between his group's skills and those at Généthon will enable us to accelerate the development of a gene therapy for myotubular myopathy", commented Généthon Chief Executive Frédéric Revah.
"Myotubular myopathy is an extremely severe muscle disease and we urgently need a treatment. The AFM is delighted with this collaboration between its operational arm Généthon and Wake Forest. Patients and their families should ultimately gain significant benefit from this work", added Laurence Tiennot-Herment, Chairperson of AFM and Généthon.
"Généthon has developed unique skills and know-how in the field of gene therapy for rare diseases in general and neuromuscular diseases in particular. For our research group, this collaboration with Généthon represents an opportunity to turn academic work into therapeutic reality", stated Dr Martin Childers, the trial's lead investigator.