Results of a study on the clinical efficacy of viltolarsen in patients with Duchenne muscular dystrophy in real-world clinical practice in the Russian Federation

T. A. Gremyakova; Гремякова Т. А.; O. I. Gremyakova; Гремякова О. И.; T. V. Morozova; Морозова Т. В.; P. V. Gremyakova; Гремякова П. В.; E. S. Gorshkova; Горшкова Е. С.; A. I. Gremyakov; Гремяков А. И.; V. S. Polenova; Поленова В. С.; O. A. Varnakhina; Варнахина О. А.; I. Yu. Vdovenko; Вдовенко И. Ю.; T. A. Dvornikova; Дворникова Т. А.; O. I. Zyryanova; Зырянова О. И.; G. E. Sakbaeva; Сакбаева Г. Е.; A. A. Stepanov; Степанов А. А.; R. A. Shaykhutdinov; Шайхутдинов Р. А.; E. V. Shreder; Шредер Е. В.; N. N. Ivanov; Иванов Н. Н.; S. S. Nikitin; Никитин С. С.

doi:10.17650/2222-8721-2026-16-1-20-35

Results of a study on the clinical efficacy of viltolarsen in patients with Duchenne muscular dystrophy in real-world clinical practice in the Russian Federation

Authors: Gremyakova T.A.¹^,2, Gremyakova O.I.¹, Morozova T.V.¹, Gremyakova P.V.¹, Gorshkova E.S.¹, Gremyakov A.I.¹, Polenova V.S.³, Varnakhina O.A.², Vdovenko I.Y.², Dvornikova T.A.², Zyryanova O.I.², Sakbaeva G.E.², Stepanov A.A.², Shaykhutdinov R.A.², Shreder E.V.², Ivanov N.N.⁴, Nikitin S.S.⁵
Affiliations:
1. Charitable Foundation “Gordey”
2. Central Clinical Hospital with Outpatient Clinic of the Administrative Directorate of the President of the Russian Federation
3. Russian Scientific and Research Institute for Medical Engineering of Federal Service for Supervision in the Sphere of Public Health
4. Lomonosov Moscow State University
5. Research Centre for Medical Genetics
Issue: Vol 16, No 1 (2026)
Pages: 20-35
Section: ORIGINAL REPORTS
Published: 19.06.2026
URL: https://nmb.abvpress.ru/jour/article/view/697
DOI: https://doi.org/10.17650/2222-8721-2026-16-1-20-35
ID: 697

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Abstract

Background. The authors present the Russian experience of clinical use of a gene therapy drug in the treatment of progressive Duchenne muscular dystrophy through exon 53 skipping, using the only drug of this class registered in Russia, viltolarsen (Viltepso^®), as an example. It is approved for the treatment of patients with amenable DMD gene deletions, however, real-world clinical efficacy across different age groups requires further clarification.

Aim. To evaluate the efficacy of viltolarsen in real world clinical practice in the Russian Federation, depending on age at treatment initiation and functional status.

Materials and methods. The study included 48 patients aged 1.83 to 17.58 years with deletion mutations correctable by exon 53 skipping (del 43–52, 45–52, 48–52, 49–52, 50–52, 52) treated with viltolarsen. Patients were stratified into 4 cohorts: 1) ambulatory patients who initiated therapy under 4 years of age (n = 4); 2) ambulatory patients who initiated therapy at 4–7 years of age (n = 20); 3) ambulatory patients who initiated therapy at ≥8 years of age (n = 19); 4) non-ambulatory patients at therapy initiation (n = 5). Standard functional tests, pulmonary function and cardiac function were assessed. Mean treatment duration was 2.1 ± 1.1 years.

Results. Viltolarsen, depending on the age of therapy initiation, improves and/or stabilizes functional parameters in ambulatory children with Duchenne muscular dystrophy, and significantly prolongs the age of ability to walk independently: 18 out of 19 patients in cohort 3 at high risk of loss of ambulation (mean age 11.6 ± 1.6 years old) maintained the ability to walk, whereas control group patients lost this function at 8.9 ± 0.9 years old (p < 0.01). Loss of ambulation in the studied cohort was associated with sharp deviations from typical child development: extreme obesity, growth spurts, cardiorespiratory problems. In patients who started therapy after loss of independent ambulation, no marked deterioration in mean cardiac function and respiratory function was observed during the follow-up period. No signs of clinically significant renal function deterioration during the follow-up period, as determined by cystatin C levels, were observed (0.896 ± 0.027 (n = 26) versus 0.941 ± 0.021 (n = 47), p >0.05).

Conclusion. Preliminary study results have shown that viltolarsen improves and/or stabilizes functional outcomes in ambulatory children with DMD, significantly prolongs the age of independent ambulation, and stabilizes cardiorespiratory parameters in non-ambulatory patients. Early initiation of comprehensive multidisciplinary management of patients with Duchenne muscular dystrophy is required as a mandatory basis for pathogenetic therapy.

Keywords

Duchenne muscular dystrophy, viltolarsen, exon 53 skipping, real world clinical practice, functional test, pathogenetic therapy

Department of Chemistry

Russian Federation, Build. 3, 1 Leninskie Gory, Moscow 119991

S. S. Nikitin

Research Centre for Medical Genetics

Email: tag@dmd-russia.ru
ORCID iD: 0000-0003-3292-2758
Russian Federation, 1 Moskvorechye St., Moscow 115522

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Results of a study on the clinical efficacy of viltolarsen in patients with Duchenne muscular dystrophy in real-world clinical practice in the Russian Federation

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Abstract

Keywords

About the authors

References

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