Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns

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Abstract

Spinal muscular atrophy (SMA) is a hereditary, autosomal recessive disease that debuts at different ages. Neurological symptoms are progressive and lead to significant limitation of life activity and reduced life expectancy. Currently, there are several drugs for the pathogenetical treatment of SMA. This article reflects the evolution of clinicians’ views on the treatment of patients with SMA as scientific evidence from clinical trials and experience in managing patients in real‑world clinical practice accumulates. The biggest debate is about the treatment of patients with 4 copies of the SMN2 gene. An analysis of the “SMA Families” patient registry database was carried out; data on two patients with 4 copies of the SMN2 gene with early onset of the disease were presented.

About the authors

S. B. Artemyeva

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, 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

Svetlana Bronislavovna Artemyeva

2 Taldomskaya St., Moscow 125412

Russian Federation

O. A. Shidlovskaya

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, 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. O. Papina

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, 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

A. V. Monakhova

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, 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. Shulyakova

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, 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

E. D. Belousova

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-3594-6974

2 Taldomskaya St., Moscow 125412

Russian Federation

O. Yu. Germanenko

Charitable foundation for helping patients with spinal muscular atrophy and other neuromuscular diseases “SMA Families”

Email: fake@neicon.ru
ORCID iD: 0000-0001-8977-5766

Build. 2, 48 Borisovskie Prudy St., Moscow 115408

Russian Federation

D. V. Vlodavets

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, 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

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