September 7 is World Duchenne Awareness Day, the opportunity to highlight the disease. More than 30 years after the discovery of the gene responsible for the disease, treatments are advancing.
The AFM-Telethon’s emblematic disease.
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in children. The Telethon’s adventure began with DMD. Yolaine de Kepper, mother of seven children, including four with DMD, is the founder and first president of the AFM. Twenty eight years later, the discovery of the gene responsible for DMD was announced during a scientific conference organised by the Association. A major breakthrough that prompted the AFM to make genetic research one of the spearheads of its actions. This to the creation in 1987 of the 1st Telethon in France by Bernard Barataud and Pierre Birambeau, both fathers of boys affected by DMD.
Major advances
Today, research has progressed considerably, several drugs are being tested, and patients have gained many years of life thanks to adapted medical care.
The year 2017 has seen a major advance in the treatment of DMD: through an international collaboration, the efficacy of an innovative gene therapy has been demonstrated by teams from the Institute of Myology, Genethon, Inserm (Inserm mixed unit/University of Nantes /Nantes CHU 1089) and the University of London (Royal Holloway). This is a first, since after a micro-dystrophin injection (a “shortened” version of the dystrophin gene) via a drug vector, the researchers managed to restore muscle strength in dogs naturally affected by DMD . A first. This study, published in Nature Communications, was supported by the Telethon.
From the Institute to the Muscle Foundation, a constant evolution towards the medicine of tomorrow
From birth to death, healthy or sick, young or old, athletic or not, muscle is at the heart of our lives. In 1996, it was a collective desire to create a Myology reference centre, unique in the world, which animated the families of the AFM-Telethon, the origin of the Institute of Myology’s creation. In addition, the scientific and medical teams mobilise their skills and expertise to serve patients and their families, which they have been welcoming for over 20 years.
Today, thanks to this energy, the project to create the Muscle Foundation gives new impetus to know, understand, evaluate and treat the organ of life: Muscle. Gathering all expertise around the muscle in one and the same pole is to give oneself every opportunity to mark the test against the disease and to allow the cure. To gather within the same pole all the expertise around muscle, is to give the best chance of scoring against the disease and finding a cure.
