Duchenne Muscular Dystrophy is the most frequent neuromuscular disease in children; it affects the ensemble of skeletal muscles and leads to an early loss of deambulation and upper limb movement, associated with severe respiratory difficulties and serious cardiac issues. It is caused by defects in a gene impeding the production of dystrophin, a protein that is essential to maintain muscle cell structure. The dystrophin gene is one of the largest known human gene, making its transfer by a gene therapy vector impossible. Researchers have thus developed microdystrophin, a shortened but functional version of this gene, for gene therapy. This optimized gene is carried by a vector derived from an Adeno-Associated Virus capable of distributing itself across the whole musculature as well as the heart and respiratory muscles. Thanks to this very innovative approach, they managed to restore muscle function in mice, rats and dogs suffering from the disease. Following this decisive step, Genethon teams, in collaboration with Sarepta, will co-develop a clinical gene therapy program for Duchenne Muscular Dystrophy. The clinical trial, aiming to treat children before the loss of deambulation, should start before the end of the year.
A study of pre-inclusion has started
In this final phase towards the clinical trial, an international study of pre-inclusion (baseline study) (in France, the United Kingdom, Israel and the United States) has been launched, including at the I-Motion Institute in Paris, a platform for pediatric clinical trials for neuromuscular diseases. In France, from September onwards, a second center will be opened in Strasbourg (Hautepierre Hospital, Pr Vincent Laugel) and other centers are scheduled to open from November onwards, including in Brest, Bordeaux, Lyon and Marseille. The purpose of this baseline study is to monitor the natural progression of DMD to determine the criteria that will be used to assess the efficacy and safety of the treatment. One hundred ambulant boys, from 5 to 9 years old, will be monitored during 3 months to 3 years. This study will help identify children who may be included in the gene therapy trial. As recruitment is ongoing, do not hesitate to contact your reference centers and hospitals in your region.
For more information about advances in DMD:
Watch the video of 2020 edition of World Duchenne Awareness Day,"Together, we are stronger" :