Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

Kristina Mikhalchuk; Olga Shchagina; Alena Chukhrova; Viktoria Zabnenkova; Polina Chausova; Nina Ryadninskaya; Dmitry Vlodavets; Sergei I Kutsev; Alexander Polyakov

doi:10.3390/ijns9020029

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

Int J Neonatal Screen. 2023 May 16;9(2):29. doi: 10.3390/ijns9020029.

Authors

Kristina Mikhalchuk¹, Olga Shchagina¹, Alena Chukhrova¹, Viktoria Zabnenkova¹, Polina Chausova¹, Nina Ryadninskaya¹, Dmitry Vlodavets², Sergei I Kutsev¹, Alexander Polyakov¹

Affiliations

¹ Research Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
² Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Taldomskaya Str. 2, 125412 Moscow, Russia.

Abstract

5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the last of the three currently available in December 2021. We launched the pilot newborn screening (NBS) program for 5q SMA in Moscow, the Russian Federation, starting in 2019. During the pilot program, 23,405 neonates were tested for the deletion of exon 7 of the SMN1 gene, the most common cause of 5q SMA. We used the SALSA^® MC002 SMA Newborn Screen Kit (MRC Holland) to specifically detect homozygous deletions of SMN1 exon 7. We used the restriction fragment length polymorphism (RFLP) approach to validate detected homozygous deletions and the SALSA MLPA Probemix P060 SMA Carrier Kit (MRC Holland) to determine the SMN2 exon 7 copy number to prescribe gene therapy for 5q SMA. Three newborns with a homozygous deletion of the SMN1 gene were detected. The calculated birth prevalence of 1:7801 appears to be similar to the results in other European countries. The children did not show any signs of respiratory involvement or bulbar weakness immediately after birth. Until now, no 5q SMA case missed by NBS has been detected.

Keywords: SMA; SMN1; newborn; pilot; screening; the Russian Federation.

Grants and funding

This research was funded by the international innovation healthcare company “F. Hoffman—La Roche”. The research was carried out within the state assignment of the Ministry of Science and Higher Education of the Russian Federation for RCMG.