Audentes Therapeutics, a biotechnology company, launched the first gene therapy clinical trial in children with myotubular myopathy disease using a gene therapy product designed at Genethon. At the 12-week timepoint, the first 3 children treated show early signs of efficacy.
With the support of the AFM-Téléthon and the Myotubular Trust, Dr Ana Buj-Bello led the Genethon team in designing an adeno-associated virus (AAV) capable of delivering the MTM1 gene to muscle cells. Preclinical studies demonstrated spectacular efficacy in a mouse model and in dogs naturally affected by the disease. On the basis of this early work, Audentes Therapeutics initiated an international phase I / II clinical trial, aimed at evaluating the safety and efficacy of the product in approximately 12 patients less than 5 years of age.
Twelve weeks after administration in the first child, Audentes Therapeutics reported positive interim data from the first cohort of patients, including:
– Significant improvements in neuromuscular function
– Significant improvements in respiratory function
– Improvement of the general condition of treated children