The use of the drug ataluren for the treatment of patients with Duchenne muscular dystrophy in real clinical practice

Abstract

Aim. To analyze anamnestic, clinical and paraclinical indicators in patients with Duchenne muscular dystrophy (DMD) receiving pathogenetic therapy with a drug for correcting nonsense mutations in the dmd gene — ataluren (translarna), to evaluate the safety of therapy and the dynamics of motor disorders in real clinical practice against the background of use drug. Materials and methods. The study included 24 patients with DMD receiving ataluren who were hospitalized at the Center for Pediatric Psychoneurology of the National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation for the period from January 2019 to February 2024. An analysis of anamnestic data, the most common clinical manifestations and paraclinical indicators, assessed the safety of the drug by the presence of serious adverse events leading to discontinuation of therapy, and the effectiveness of treatment using functional scales of motor activity: the “North Star” scale and the 6-minute walk test. Results. The age of onset of independent walking was 14.3 ± 2.6 months, the age of onset of the disease was 3.3 ± 2.6 years, the age of visiting a doctor was 4.25 ± 2.00 years, the age of diagnosis was 5.3 ± 2 ,3 years, age of initiation of glucocorticosteroids (GCS) — 6.3 ± 1.8 years. GCS in an adequate dose and regimen was taken by 13 (56%) patients. Cognitive, emotional-volitional and behavioral disorders were registered in 17 (70.8%) patients, excess body weight — in 6 (25%), and stiffness of the ankle joints — in 9 (37.5%).Pulmonary function was analyzed in 16 (66.6%) patients, of which a decrease was detected in 1 boy. No patient experienced a serious adverse event leading to discontinuation of ataluren. When assessing the effectiveness of treatment in a group of patients under 7 years of age (n = 11), 10 (91%) children showed improvement or stabilization of their condition according to the 6-minute walk test; in 6 (54.5%) — improvement in motor skills when analyzing scores on the “North Star” scale; in 5 (45.5%) the condition was stabilized. the group of patients over 7 years of age (n = 13), according to the 6-minute walk test, 4 (30.8%) children showed stabilization of the condition, 7 (53.8%) had disease progression, 2 (15.4%) the child entered the non-ambulatory stage. When analyzing scores on the “North Star” scale, 1 (7.7%) child showed improvement in performance, 6 (46.1%) — stabilization, 4 (30.8%) — decrease, 2 (15.4%) — loss outpatient. Conclusion. Early diagnosis of the disease and timely initiation of therapy in compliance with all standards of management of patients with DMD are crucial for maintaining motor function. Pathogenetic therapy with ataluren increases the duration of the outpatient stage, improving and/or stabilizing the motor skills of patients.