The experience of treating patients with Duchenne myodystrophy caused by nonsense mutation

Introduction. Aim. Assessment of the trend in the motor activity by collecting anamnestic data and dynamic monitoring of patients with Duchenne myodystrophy caused by nonsense mutation (nmMDD) in the Moscow region and receiving pathogenetic therapy with ataluren.

Materials and methods. Dynamic monitoring of thirteen nmMDD patients was carried out on the basis of the Center for Pediatric Neuropsychiatry (CDPN) of the Scientific Research Clinical Institute of Childhood of the Moscow region. In this study, a retrospective analysis of anamnestic data, motor activity of patients according to the tests “North Star” (NSAA), and 6-minute walk (6MWT) was performed. To evaluate the effectiveness of ataluren therapy, an indirect comparison was performed with data from the STRIDE and CINRG DNHS registries.

Results. In the study group of patients (n = 13), the age of onset of independent walking was 15.7 ± 4.5 months, and the age of diagnosis was 60.2 ± 21.7 months (5.0 ± 1.8 years). 92% of patients (n = 12) receive glucocorticosteroids (GCS), 5 of them take prednisone, and 7 take deflazacort. The average age at the start of taking GCS was 7.1 ± 0.9 years. The age of initiation of pathogenetic therapy with ataluren was 7.0 ± 1.3 years. The duration of patient follow-up ranged from 1.5 to 8 years. Data on patients with verified results of spirometry (46%) and echocardiography (92%) over the past 12 months were distributed as follows: no decrease in left ventricular ejection fraction was recorded, a decrease in forced pulmonary vital capacity of mild degree was observed in 1 patient. 8 (62%) patients receive regular rehabilitation measures. The NSAA test (n = 10) and the 6-minute walking test (n = 8) were used to assess motor functions. When analyzing the data using the 6-minute walk test, an increase in the distance traveled was observed in 6 (75%) patients, and a decrease in 2 (25%). The results of the NSAA test showed improvement in 2 (20%) patients, stabilization in 6 (60%), and deterioration in 2 (20%) (including loss of outpatient care in 1).

Conclusion. Timely diagnosis and treatment of patients in accordance with clinical guidelines play a key role in the successful treatment in DMD patients. Pathogenetic therapy with ataluren slows down the rate of disease progression and improves the survival nmMDD patients.

Compliance with ethical standards. Voluntary informed consent was obtained from the legal representatives of all patients.

For correspondence: Fatima I. Nakhusheva, e-mail nakhusheva@mail.ru

Contribution:
Nakhusheva F.I. — concept and design of the article, text writing, editing;
Serov A.V. — concept and design of the article, text writing, editing;
Lapochkin O.L. — editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Conflict of interest. Nakhusheva F.I., Lapochkin O.L. are lecturers receiving honoraria from the pharmaceutical company PTC Therapeutics LLC.

Funding. The study had no sponsorship.

Received: August 20, 2025
Accepted:September 9, 2025
Published: October 31, 2025

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