Dynamics of the course of Duchenne muscular dystrophy in patients taking ataluren and concomitant drug and non-drug therapy

Abstract

Background. Duchenne muscular dystrophy is a hereditary, X-linked, progressive, disabling disease. One of the possible pathogenetic methods for treating this disease is the drug ataluren, which acts at the stage of protein translation in the ribosome and makes it possible to read information from mRNA, despite the presence of a premature stop codon in it, and, as a result, synthesize the dystrophin protein.Aim. To evaluate the dynamics of the course of Duchenne muscular dystrophy in patients receiving appropriate drug and non-drug therapy and patients receiving pathogenetic therapy with ataluren.Materials and methods. We examined 38 patients with genetically confirmed Duchenne muscular dystrophy. Of these, 11 patients with a genetically confirmed nonsense mutation receiving pathogenetic therapy with ataluren and 27 patients in the comparison group with other mutations in the dystrophin gene. 6‑minute walk test and timed function tests was done at baseline and during follow-up. Ataluren side effects were assessed.Results. Statistically significant positive dynamics were revealed during follow-up at 12 month when assessing the distance of a 6‑minute walk test and tests for getting up from the floor and running 10 meters in groups taking ataluren and receiving standard drug therapy with the initial initiation of a course of regular physical exercise. The control group was characterized by negative dynamics in speed tests.Conclusion. Thus, when taking ataluren in the standard recommended dosage, patients with Duchenne muscular dystrophy with a nonsense mutation shows a decrease in the rate of disease progression and an improvement in speed and endurance. The initial prescription of regular non-weightbearing aerobic exercise on the early ambulatory stage is also characterized by an increase in motor skills.