Modern methods of therapy of Duchenne muscular dystrophy: literature review with a clinical case

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Abstract

Duchenne muscular dystrophy is a genetic, X-linked, relentlessly progressive disease. Due to a genetic defect, the reading frame is disrupted during the synthesis of the dystrophin protein, resulting in its loss of functionality. As a result of the absence of dystrophin, there is a gradual destruction of muscle cells. In recent years, pathogenetic therapy for Duchenne muscular dystrophy has become available in Russia. However, the therapy available in Russia is specific, depending on the mutation variant, and may be recommended for approximately one third of patients. This article discusses the features of exon-skipping therapy, the clinical effectiveness, and safety of this group of drugs. The effectiveness and safety of the therapy are demonstrated through a clinical case of a patient receiving one of the drugs in this group.

About the authors

S. B. Artemyeva

Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Author for correspondence.
Email: artemievasb@gmail.com
ORCID iD: 0000-0002-8876-7462

2 Taldomskaya St., Moscow 125412

Russian Federation

О. А. Shidlovskaya

Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-2017-1651

2 Taldomskaya St., Moscow 125412

Russian Federation

Yu. О. Papina

Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-3794-6855

2 Taldomskaya St., Moscow 125412

Russian Federation

А. V. Monakhova

Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-9828-9348

2 Taldomskaya St., Moscow 125412

Russian Federation

I. V. Shulyakov

Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0009-0006-6335-9995

2 Taldomskaya St., Moscow 125412

Russian Federation

D. V. Vlodavets

Research Clinical Pediatric Institute, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-2635-2752

2 Taldomskaya St., Moscow 125412

Russian Federation

References

  1. Clinical recommendations “Progressive Duchenne muscular dystrophy. Becker’s progressive muscular dystrophy”. 2023. (In Russ.)
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  3. Gao Q., McNelly E.M. The dystrophin complex: structure, function and implications for therapy. Compr Physiol 2015;5(3):1223–39. doi: 10.1002/cphy.c140048
  4. Blake D.J., Weir A., Newey S.E. et al. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002;82(2):291–329. doi: 10.1152/physrev.00028.2001
  5. Werneck L.C., Lorenzoni P.J., Dal-Prá Ducci R. et al. Duchenne muscular dystrophy: An historical treatment review. Arq Neuropsiquiatr 2019;77(8):579–89. doi: 10.1590/0004-282X20190088
  6. Frank D.E., et al. Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology 2020;94(21):e2270–e2282.
  7. Mercuri E., Seferian A.M., Servais L. et al. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping. Neuromuscul Disord 2023;33(6):476–83. doi: 10.1016/j.nmd.2023.03.008.
  8. Clemens P.R., Rao V.K., Connollyet A.M. et al. Safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping. A phase 2 randomized clinical trial. JAMA Neurol 2020;77(8):982–91. doi: 10.1001/jamaneurol.2020.1264
  9. Iannaoccone S., Phan H., Straub V. et al. Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the phase 3 ESSENCE trial. Neuromuscul Disord 2022;32(1).
  10. Mercuri E., Muntoni F., Nascimento Osorio A. et al. Safety and effectiveness of ataluren: Comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. J Comp Eff Res 2020;9(5):341–60. doi: 10.2217/cer-2019-0171.
  11. Komaki H., Nagata T., Saito T. et al. Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Sci Transl Med 2018;10(437):eaan0713. doi: 10.1126/scitranslmed.aan0713
  12. Clemens P.R., Rao V.K., Connolly A.M. et al. Efficacy and safety of viltolarsen in boys with Duchenne muscular dystrophy: results from the phase 2, open-label, 4-year extension study. J Neuromuscul Dis 2023;10(3):439–47. doi: 10.3233/JND-221656

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Copyright (c) 2024 Artemyeva S.B., Shidlovskaya О.А., Papina Y.О., Monakhova А.V., Shulyakov I.V., Vlodavets D.V.

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