An advantage of 30 meters per year. Ataluren, from the American laboratory PTC Pharmaceuticals, which has just obtained temporary authorization (for one year) to market, will allow myopathsde Duchenne to lose their mobility less quickly. The gains would be significant, according to international trials carried out on children over 5 years old. While without medication, young patients lose an average of 40 meters per year in distance traveled, children would reduce the loss of ambulation to around 10 meters per year. “Children treated with ataluren over a year showed an advantage of 30 meters”, enthuses Le Figaro Professor Thomas Voit, medical and scientific director at the Institute of Myology who participated in the tests.
Duchenne muscular dystrophy, or Duchenne muscular dystrophy, is a rare disease that affects around 2,500 people in France. It is defined by Inserm as a genetic disease causing progressive degeneration of all the muscles in the body.
Ataluren, which will be marketed under the name Translarna in Europe, would allow 13% of Duchenne muscular dystrophy to slow the progression of their disease. Why 13%? This rate corresponds to patients carrying a specific mutation, called a “stop mutation”, explains Le Figaro. “This mutation prematurely blocks the synthesis of a protein, dystrophin, essential for proper muscle function”.
Ataluren could be used in other treatments other than that linked to Duchenne muscular dystrophy. About fifty other genetic diseases such as cystic fibrosis could benefit from it.
