Positive experience of nmDMD patient treatment

Progressive Duchenne muscular dystrophy (DMD) (OMIM # 310200) is an inherited X-linked neuromuscular disease caused by a mutation in the DMD gene encoding the dystrophin protein, resulting in absent or deficient dystrophin function. It usually affects boys during childhood. Among mutations, large deletions are found in ~65% of cases; ~10% of mutations are represented by duplications, and the remaining cases are represented by point and small mutations, of which 10–15% are represented by nonsense mutations (stop mutation). Currently, pathogenetic therapy is available for a number of deletions and point nonsense mutations in this gene. Translarna® (ataluren) is the only drug for pathogenetic therapy of patients with DMD caused by nonsense mutations registered in the Russian Federation. We present a clinical case of the earliest and long- lasting effective treatment with Translarna® (ataluren) in a boy born in 2016 in St. Petersburg.

Contribution:
Snegova E.V. — concept, writing text, editing;
Oshchenkova N.A. — writing text;
Glebovskaia O.I. — writing text;
Sosnina I.B. — editing.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.

Acknowledgement. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: February 6, 2024
Accepted: March, 6, 2024
Published: April 27, 2024

1. Bushby K., Finkel R., Birnkrant D.J., Case L.E., Clemens P.R., Cripe L., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010; 9(1): 77–93. https://doi.org/10.1016/s1474-4422(09)70271-6

2. Birnkrant D.J., Bushby K., Bann C.M., Apkon S.D., Blackwell A., Brumbaugh D., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018; 17(3): 251–67. https://doi.org/10.1016/s1474-4422(18)30024-3

3. Emery A.E.H., Muntoni F., Quinlivan R. Duchenne Muscular Dystrophy. Oxford, UK: Oxford University Press; 2015.

4. Clinical recommendations of the Ministry of Health of the Russian Federation «Progressive Duchenne muscular dystrophy. Progressive Becker muscular dystrophy»; 2023. (in Russian)

5. LP-006596. Instructions for the medical use of the drug Translorna; 2023. (in Russian)