Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys. Due to the genetically determined absence of dystrophin, a key protein of muscle fiber, it causes progressive proximal muscle deficit and cardio-respiratory complications leading to premature death. Oral glucocorticoids, such as prednisone or deflazacort, have become the treatment of choice for the maintenance of independent walking and probably also on cardiac and respiratory functions. In clinical practice, however, the response to corticosteroids varies from one patient to another.
In an article published in July 2020, a consortium of European researchers revealed the existence of a biomarker, a TNF receptor (TNFRSF10A) which would predictively account for the good or bad response to steroids in this population of patients. . This discovery follows a genetic study, based on SNPs, conducted on three distinct cohorts of patients with DMD, classified as “good responders” (maintenance of walking beyond 15 years) and “poor responders” (loss of walking before 10 years). Patients had to have received steroids for at least 24 months. A particular haplotype of the TNFRSF10A gene was identified after targeted sequencing of 205 genes of interest in a first cohort of 21 patients and then validated in the other two.