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Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Efimova, Irina Yu; Zinchenko, Rena A; Marakhonov, Andrey V; Balinova, Natalya V; Mikhalchuk, Kristina A; Shchagina, Olga A; Polyakov, Alexander V; Mudaeva, Dzhaina A; Saydaeva, Djamila H; Matulevich, Svetlana A; Parshintseva, Polina D; Belyashova, Elena Yu; Yakubovskiy, Grigoriy I; Tebieva, Inna S; Gabisova, Yulia V; Irinina, Nataliya A; Jamschikova, Anna V; Nurgalieva, Liya R; Saifullina, Elena V; Nevmerzhitskaya, Kristina S; Belyaeva, Tatiana I; Romanova, Olga S; Voronin, Sergey V; Kutsev, Sergey I.
Afiliación
  • Efimova IY; Research Centre for Medical Genetics, Moscow, Russia.
  • Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia.
  • Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: marakhonov@generesearch.ru.
  • Balinova NV; Research Centre for Medical Genetics, Moscow, Russia.
  • Mikhalchuk KA; Research Centre for Medical Genetics, Moscow, Russia.
  • Shchagina OA; Research Centre for Medical Genetics, Moscow, Russia.
  • Polyakov AV; Research Centre for Medical Genetics, Moscow, Russia.
  • Mudaeva DA; Republican Perinatal Center, Grozny, Chechen Republic, Russia.
  • Saydaeva DH; State Budgetary Institution "Maternity Hospital" of the Ministry of Healthcare of the Chechen Republic, Grozny, Chechen Republic, Russia.
  • Matulevich SA; S.V. Ochapovsky Regional Clinical Hospital No. 1, Krasnodar, Krasnodar, Russia.
  • Parshintseva PD; Children's Regional Clinical Hospital of the Ministry of Health of Krasnodar Region, Krasnodar, Russia.
  • Belyashova EY; Orenburg Regional Clinical Hospital No. 2, Orenburg, Russia.
  • Yakubovskiy GI; Ryazan Regional Perinatal Center, Ryazan, Russia.
  • Tebieva IS; North-Ossetian State Medical Academy, Vladikavkaz, Russia; Republican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Vladikavkaz, Russia.
  • Gabisova YV; Republican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Vladikavkaz, Russia.
  • Irinina NA; The State Budgetary Healthcare Institution of the Vladimir Region "Regional Clinical Hospital", Vladimir, Russia.
  • Jamschikova AV; The State Budgetary Healthcare Institution of the Vladimir Region "Regional Clinical Hospital", Vladimir, Russia.
  • Nurgalieva LR; Republican Center for Medical Genetics, Ufa, Russia.
  • Saifullina EV; Bashkir State Medical University, Ufa, Russia.
  • Nevmerzhitskaya KS; Regional Clinical Children Hospital, Yekaterinburg, Russia.
  • Belyaeva TI; Clinical Diagnostic Center "Maternal and Child Health", Yekaterinburg, Russia.
  • Romanova OS; Clinical Diagnostic Center "Maternal and Child Health", Yekaterinburg, Russia.
  • Voronin SV; Research Centre for Medical Genetics, Moscow, Russia.
  • Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia.
Pediatr Neurol ; 156: 147-154, 2024 Jul.
Article en En | MEDLINE | ID: mdl-38781723
ABSTRACT

BACKGROUND:

This study presents the findings of a newborn screening (NBS) pilot project for 5q-spinal muscular atrophy (5q-SMA) in multiple regions across Russia for during the year 2022. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of 5q-SMA in Russia as well as the distribution of patients with different number of SMN2 copies.

METHODS:

The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns. SMA screening assay was performed using a commercially available real-time polymerase chain reaction kit, the Eonis SCID-SMA.

RESULTS:

In one year, 202,908 newborns were screened, identifying 26 infants with homozygous deletion of SMN1 exon 7, yielding an estimated 5q-SMA incidence of 17804 newborns. It was found that 38.46% had two SMN2 copies, 42.31% had three copies, 15.38% had four copies, and 3.85% had five copies of SMN2. Immediate treatment was proposed for patients with two or three SMN2 copies. Infants with four or more SMN2 copies warranted further investigation on management and treatment. Short-term monitoring after gene therapy showed motor function improvements. Delays in treatment initiation were observed, including the testing for adeno-associated virus 9 antibodies and nonmedical factors.

CONCLUSIONS:

The study emphasizes the need for a standardized algorithm for early diagnosis and management through NBS to benefit affected families. Overall, the NBS program for 5q-SMA in Russia demonstrated the potential to improve outcomes and transform SMA from a devastating disease to a chronic condition with evolving medical requirements.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Tamizaje Neonatal / Proteína 1 para la Supervivencia de la Neurona Motora / Proteína 2 para la Supervivencia de la Neurona Motora Límite: Female / Humans / Male / Newborn País/Región como asunto: Asia / Europa Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Tamizaje Neonatal / Proteína 1 para la Supervivencia de la Neurona Motora / Proteína 2 para la Supervivencia de la Neurona Motora Límite: Female / Humans / Male / Newborn País/Región como asunto: Asia / Europa Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Estados Unidos