Email this article The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results
- Authors: Kekeeva T.N.1, Pechatnikova N.L.1, Vitkovskaya I.P.1,2,3, Kakaulina V.S.1, Krasnoschekova N.A.1, Martynenko Y.E.1
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Affiliations:
- Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
- Central Research Institute of Healthcare Organization and Informatization, Ministry of Health Russia
- Pirogov Russian National Research Medical University, Ministry of Health of Russia
- Issue: Vol 13, No 4 (2023)
- Pages: 56‑61
- Section: ORIGINAL REPORTS
- Published: 05.01.2024
- URL: https://nmb.abvpress.ru/jour/article/view/573
- DOI: https://doi.org/10.17650/2222-8721-2023-13-4-56-61
- ID: 573
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Abstract
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder typically manifesting in boys aged 2–5 years, characterized by a progressive course. According to natural disease progression data, individuals with DMD typically lose the ability to walk independently by the age of 13. In most cases, the disease leads to cardiorespiratory complications, resulting in a lethal outcome between the ages of 20–30.
In recent years, there have been therapeutic agents developed for the pathogenic treatment of this condition. One such medication is ataluren (Translarna®), used in patients with DMD caused by the formation of a “stop codon” (nonsense mutation) in the DMD gene, responsible for the development of the disease.
This article presents the experience of applying ataluren (Translarna®) in boys residing in Moscow who suffer from Duchenne muscular dystrophy.
About the authors
T. N. Kekeeva
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Author for correspondence.
Email: Kekeeva.genetic@gmail.com
ORCID iD: 0000-0002-4986-5748
1/9 Dobryninskiy Pereulok, Moscow 119049
Russian FederationN. L. Pechatnikova
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Email: fake@neicon.ru
ORCID iD: 0000-0002-2445-132X
1/9 Dobryninskiy Pereulok, Moscow 119049
Russian FederationI. P. Vitkovskaya
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department; Central Research Institute of Healthcare Organization and Informatization, Ministry of Health Russia; Pirogov Russian National Research Medical University, Ministry of Health of Russia
Email: fake@neicon.ru
ORCID iD: 0000-0002-0740-1558
1/9 Dobryninskiy Pereulok, Moscow 119049
11 Dobrolyubova St., Moscow 127254
1 Ostrovityanova St., Moscow 117997
Russian FederationV. S. Kakaulina
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Email: fake@neicon.ru
ORCID iD: 0000-0002-3764-2766
1/9 Dobryninskiy Pereulok, Moscow 119049
Russian FederationN. A. Krasnoschekova
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Email: fake@neicon.ru
ORCID iD: 0000-0003-2255-6096
1/9 Dobryninskiy Pereulok, Moscow 119049
Russian FederationYu. E. Martynenko
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Email: fake@neicon.ru
ORCID iD: 0000-0002-0899-9627
1/9 Dobryninskiy Pereulok, Moscow 119049
Russian FederationReferences
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