Congenital myotubular myopathy is a neuromuscular disease of children caused by mutations in the MTM1 gene encoding myotubularin, a protein involved in the functioning of muscle cells.
Since 2009, Dr Buj-Bello has been working at Généthon on the development of a genetic therapy for this disease, which affects 1 out of 50,000 newborn males. The European charity Myotubular Trust, based in the UK, the largest association of patients and parents in Europe for this disease, decided to support Dr Buj-Bello’s team with a grant of € 120,000 over 2 years.
Gene therapy clinical trial
Anne Lennox, General Director of the Myotubular Trust stated: “We are pleased to support the work of Dr Anna Buj-Bello, who was the first researcher to demonstrate that gene transfer extends the life of mice suffering from myotubular myopathy. Thanks to many years of research and international co-operation, the work of Généthon, a world-renowned research organization with unique expertise in the field of gene therapy, allows us to hope that we will soon have a treatment for this disease”.
Fulvio Mavilio, Scientific director of Généthon, said: “The support given by the Myotubular Trust will enable Dr Buj-Bello’s team to make quicker progress in developing a gene therapy clinical trial for myotubular myopathy. For such a rare disease, co-operation with an international patient association is a major advantage and a key success factor”.