Study to treat FKRP-related limb-girdle muscular dystrophy type 2I/R9 represents 30 years of research and is being conducted by Genethon spinout Atamyo Therapeutics.
Genethon announced today the first patient has been dosed in a European Phase1/2 trial of a replacement gene therapy (ATA-100) for FRKP-related limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9).
The Phase 1/2 trial, which is under way in Denmark, France and the U.K, is sponsored by Atamyo Therapeutics, an Evry, France-based biotechnology company created by Genethon to accelerate development of gene therapies for LGMD, a group of devastating pathologies characterized by progressive degeneration of muscles of the upper and lower limbs.
“This major milestone is the result of 30 years of pioneering research conducted by Isabelle Richard, Ph.D., who is head of our Progressive Muscular Dystrophies team,” said Frederic Revah, Ph.D., Genethon CEO. “The treatment of this first patient demonstrates the quality of the work carried out at Genethon and embodies our ‘raison d’être,’ which is creating new therapies for rare diseases without treatment. This trial is the 12th ongoing trial in the world resulting from the innovative R&D at Genethon.”
Dr. Richard, who is Atamyo’s Co-Founder and Chief Scientific Officer, added, “This treatment for patients suffering from LGMD2I/R9 is the culmination of years of work for my team and myself. This is a step that we researchers were all waiting for and I hope that this drug candidate will make it possible to stop the disease or reverse its course in patients. We expect ATA-100 to be the first of a series of new gene therapies for other limb girdle muscular dystrophies.”
LGMD2I/R9 is caused by mutations in the gene that produces fukutin-related protein (FKRP). It affects an estimated 5,000 people in the U.S. and Europe. Symptoms appear around late childhood or early adulthood. Patients suffer from loss of ambulation and are prone to respiratory impairment and myocardial dysfunction. There are no treatments for the disease.
There are more than 30 subtypes of LGMD associated with genetic mutations. Two other gene therapies for the limb girdle myopathies, gamma-sarcoglycanopathy and calpainopathy, also were developed by Dr. Richard’s team at Genethon and licensed to Atamyo.
ATA-100 is a one-time replacement gene therapy combining an AAV vector and a normal copy of the FKRP gene. The Phase 1/2 clinical trial will assess the safety and efficacy of ATA-100. The first patient was treated by Prof. John Vissing, Director of the Copenhagen Neuromuscular Center at the Rigshospital National Hospital and principal investigator of this study. For more information see Atamyo’s press release.