14 Jun 2012

First advances

Illustration for article: First advances
The French Muscular Dystrophy Association (AFM-Téléthon) has supported many research projects intended to discover new drugs or evaluate existing drugs for new treatments. Some of them have changed medical practices!

Perindopril to preserve the hearts of Duchenne children

Perindopril is a member of the drug family known as angiotensin converting enzyme inhibitors (ACE inhibitors). These have been known for a long time and used to treat high blood pressure.

In 2005, a study performed by researchers at the Cochin hospital (Paris), supported by AFM-Téléthon, was published in the Journal of the American College of Cardiology. It showed that perindopril helped maintain the hearts of children suffering from Duchenne muscular dystrophy in good condition for a longer period. Since then, perindopril has been recommended for these children from the age of 10.

An anti-cholesterol drug against a metabolic myopathy

Bezafibrate, a drug used to lower cholesterol, stimulated muscular metabolic functions and led to an improvement in physical ability and reduced muscle pain in patients suffering from a carnitine palmitoyl transferase 2 (CPT2) deficit. These results came from a French phase I/II pilot study performed by researchers at the Assistance-Publique-Hôpitaux de Paris, CNRS (French National Centre for Scientific Research) and Inserm (French National Institute for Health and Medical Research) and supported by AFM-Téléthon. They were reported in the New England Journal of Medicine (NEJM) in February 2009. This drug could also be effective for another deficit, VLCAD (very long chain acyl-coenzyme A dehydrogenase), another form of myopathy with similar symptoms to those of a CPT2 deficit.

Deferiprone and idebenone, promising for Friedreich's ataxia

Deferiprone (Ferriprox, Apotex/Chiesi), an iron chelator, has been shown to improve neurological symptoms in patients suffering from Friedreich's ataxia. An effect was observed in movement coordination, speech and certain sensory disorders. The trial, supported by AFM-Téléthon, was designed following the discovery of an abnormal accumulation of iron in the cerebellum of patients suffering from this disease.

Another trial evaluated the efficacy of idebenone, an antioxidant and neuroprotector, with an interesting effect on the cardiac hypertrophy which develops in these patients as well as the neurological symptoms. Evaluation of these two treatment options is continuing.