Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)

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Abstract

Currently, there are three drugs in the world for the pathogenetic therapy of spinal muscular atrophy 5q: nusinersen, risdiplam and onasemnogene abeparvovek. At the same time, it is still unknown to what extent this treatment is able to change the natural history of the disease, and the development of methods for evaluating the effectiveness of treatment is the subject of active scientific research. This article is a review of studies of laboratory approaches for assessing the disease severity and the response to nusinersen therapy in patients with spinal muscular atrophy 5q in various age groups.

About the authors

K. D. Popov

V.A. Almazov National Medical Research Center, Ministry of Health of Russia

Author for correspondence.
Email: fake@neicon.ru
ORCID iD: 0000-0002-7837-5801

2 Akkuratova St., Saint Petersburg 197341

Russian Federation

T. M. Alekseeva

V.A. Almazov National Medical Research Center, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-4441-1165

2 Akkuratova St., Saint Petersburg 197341

Russian Federation

V. D. Nazarov

I.P. Pavlov First Saint Petersburg State Medical University

Email: fake@neicon.ru

6–8 Lva Tolstogo St., Saint Petersburg 19702

Russian Federation

A. I. Vlasenko

V.A. Almazov National Medical Research Center, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-3727-8017

2 Akkuratova St., Saint Petersburg 197341

Russian Federation

S. M. Malyshev

V.A. Almazov National Medical Research Center, Ministry of Health of Russia

Email: malyshev.stm@gmail.com
ORCID iD: 0000-0002-4381-347X

Stanislav Mikhaylovich Malyshev

2 Akkuratova St., Saint Petersburg 197341

Russian Federation

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Copyright (c) 2023 Popov K.D., Alekseeva T.M., Nazarov V.D., Vlasenko A.I., Malyshev S.M.

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