Email this article Clinical experience of treating 28 patients with Duchenne muscular dystrophy with the exon 45 skipping drug casimersen
- Authors: Agafonova A.A.1, Artemyeva S.B.2, Vlodavets D.V.2, Kuzenkova L.M.3, Minaycheva L.I.1, Mikhaylova S.V.4, Petlina E.Y.1, Podkletnova T.V.3, Popovich S.G.3, Seitova G.N.1, Uvakina E.V.3
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Affiliations:
- Scientific Research Institute of Medical Genetics, Tomsk National Research Center of the Russian Academy of Sciences
- Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, N. I. Pirogov Russian National Research Medical University
- National Medical Research Center for Children’s Health, Ministry of Health of Russia
- Russian Children’s Clinical Hospital, N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
- Issue: Vol 16, No 2 (2026)
- Pages: 49-59
- Section: ORIGINAL REPORTS
- Published: 21.09.2026
- URL: https://nmb.abvpress.ru/jour/article/view/715
- DOI: https://doi.org/10.17650/2222-8721-2026-16-2-49-59
- ID: 715
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Abstract
Background. Duchenne muscular dystrophy (DMD) is an irreversible, progressive fatal genetic disorder caused by the absence of functional dystrophin protein in muscle due to mutations in the DMD gene. Exon-skipping therapy for DMD aims to increase the amount of functionally active protein dystrophin. Casimersen, a drug for skipping exon 45, is indicated for patients with certain deletions. Clinical studies have confirmed an increase in dystrophin levels and improved motor activity in patients with DMD treated with casimersen.
Aim. To present the experience of treating patients with DMD who were eligible for exon 45 skipping therapy.
Materials and methods. Twenty-eight patients with DMD who received exon 45 skipping therapy were observed. Patients were assessed for functional status, motor tests (Six-Minute Walk Test, North Star Ambulatory Assessment) dynamics, and respiratory function with dynamic assessment of functional vital capacity.
Results. Most outpatients showed stabilization of their condition with preservation of the ability to move independently, improvement or stability in functional (Six-Minute Walk Test, North Star Ambulatory Assessment) and timed test indicators, as well as stabilization of upper limb function and absence of progression of respiratory function decline in non-ambulatory patients.
Conclusion. The safety and tolerability of casimersen therapy were generally good in all patients with DMD in our sample. All patients who initiated casimersen therapy in the early outpatient stage remained in this stage at the analysis date.
About the authors
A. A. Agafonova
Scientific Research Institute of Medical Genetics, Tomsk National Research Center of the Russian Academy of Sciences
Email: mityaus@gmail.com
ORCID iD: 0000-0003-0426-6861
Russian Federation, 10 Naberezhnaya reki Ushayki St., Tomsk 634050
S. B. Artemyeva
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, N. I. Pirogov Russian National Research Medical University
Email: mityaus@gmail.com
ORCID iD: 0000-0002-8876-7462
Russian Federation, 2 Taldomskaya St., Moscow 125412
D. V. Vlodavets
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, N. I. Pirogov Russian National Research Medical University
Author for correspondence.
Email: mityaus@gmail.com
ORCID iD: 0000-0003-2635-2752
Russian Federation, 2 Taldomskaya St., Moscow 125412
L. M. Kuzenkova
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Email: mityaus@gmail.com
ORCID iD: 0000-0002-9562-3774
Russian Federation, Build. 1, 2 Lomonosovskiy Prospect, Moscow 119296
L. I. Minaycheva
Scientific Research Institute of Medical Genetics, Tomsk National Research Center of the Russian Academy of Sciences
Email: mityaus@gmail.com
ORCID iD: 0000-0002-1752-2521
Russian Federation, 10 Naberezhnaya reki Ushayki St., Tomsk 634050
S. V. Mikhaylova
Russian Children’s Clinical Hospital, N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Email: mityaus@gmail.com
ORCID iD: 0000-0002-2115-985X
Russian Federation, 117 Leninskiy Prospekt, Moscow 119571
E. Y. Petlina
Scientific Research Institute of Medical Genetics, Tomsk National Research Center of the Russian Academy of Sciences
Email: mityaus@gmail.com
ORCID iD: 0009-0008-1017-9610
Russian Federation, 10 Naberezhnaya reki Ushayki St., Tomsk 634050
T. V. Podkletnova
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Email: mityaus@gmail.com
ORCID iD: 0000-0001-6415-156X
Russian Federation, Build. 1, 2 Lomonosovskiy Prospect, Moscow 119296
S. G. Popovich
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Email: mityaus@gmail.com
ORCID iD: 0000-0002-9697-500X
Russian Federation, Build. 1, 2 Lomonosovskiy Prospect, Moscow 119296
G. N. Seitova
Scientific Research Institute of Medical Genetics, Tomsk National Research Center of the Russian Academy of Sciences
Email: mityaus@gmail.com
ORCID iD: 0000-0002-1545-2320
Russian Federation, 10 Naberezhnaya reki Ushayki St., Tomsk 634050
E. V. Uvakina
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Email: mityaus@gmail.com
ORCID iD: 0000-0002-8381-8793
Russian Federation, Build. 1, 2 Lomonosovskiy Prospect, Moscow 119296
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