A rare genetic disease, Duchenne muscular dystrophy (DMD) mainly affects boys. It results from pathogenic mutations in the DMD gene which encodes dystrophin, a protein normally present in skeletal muscles, but also in other tissues (heart, brain, etc.). DMD thus results in motor, respiratory, cardiac and sometimes cognitive impairment.
Major agreements on corticosteroid therapy and eteplirsen
In the United States, 15 physicians specializing in DMD used the Delphi method to question the drug management of muscle weakness, based on a systematic review of the literature:
- unsurprisingly, the 15 experts agree on the effectiveness of corticosteroids in slowing the progression of muscle damage (loss of walking delayed by 1 to 3 years) and delaying complications of the disease;
- if 14 experts think prednisone and deflazacort (not available in France) as effective, opinions are less unanimous concerning their respective side effects, and the ideal rate of administration (daily or at weekends) of corticosteroid therapy, debates which the arguments of the national diagnostic and care protocol (PNDS) published in France at the end of 2019 were echoed;
- the consensus is total (15/15) concerning the proposal of a treatment by eteplirsen (Exondys 51®), an antisense oligonucleotide not authorized in Europe, to patients whose DMD gene mutation lends itself to exon skipping 51, at best as soon as myopathy is diagnosed, although 12 of the 15 experts would also suggest it at a later stage (non-ambulant patient) provided that a certain degree of autonomy remains;
- even though eteplirsen has not yet shown a significant and lasting effect on motor function, 13 out of 15 experts believe that it slows the progression of the disease, 12 that it delays the loss of walking and slows down decline in respiratory function, its effect on heart function being much more debated.
