The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results
T. N. Kekeeva,
N. L. Pechatnikova,
I. P. Vitkovskaya,
V. S. Kakaulina,
N. A. Krasnoschekova,
Yu. E. Martynenko https://doi.org/10.17650/2222-8721-2023-13-4-56-61
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
Russian Federation
Russian Federation
1/9 Dobryninskiy Pereulok, Moscow 119049
N. L. Pechatnikova
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Russian Federation
Russian Federation
1/9 Dobryninskiy Pereulok, Moscow 119049
I. 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
Russian Federation
Russian Federation
1/9 Dobryninskiy Pereulok, Moscow 119049
11 Dobrolyubova St., Moscow 127254
1 Ostrovityanova St., Moscow 117997
V. S. Kakaulina
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Russian Federation
Russian Federation
1/9 Dobryninskiy Pereulok, Moscow 119049
N. A. Krasnoschekova
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Russian Federation
Russian Federation
1/9 Dobryninskiy Pereulok, Moscow 119049
Yu. E. Martynenko
Morozov Children’s City Clinical Hospital, Moscow Healthcare Department
Russian Federation
Russian Federation
1/9 Dobryninskiy Pereulok, Moscow 119049
References
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Review
For citations:
Kekeeva T.N., Pechatnikova N.L., Vitkovskaya I.P., Kakaulina V.S., Krasnoschekova N.A., Martynenko Yu.E. The experience of using ataluren in Duchenne muscular dystrophy in Moscow: first results. Neuromuscular Diseases. 2023;13(4):56‑61. (In Russ.) https://doi.org/10.17650/2222-8721-2023-13-4-56-61
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