Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

6 patients with spinal muscular atrophy were identified during the first month of the pilot project of neonatal screening for SMA (spinal muscular atrophy) and primary immunodeficiencies

The pilot project of mass neonatal screening was organized by the Research Centre for Medical Genetics, and supported by Dmitry Rogachev National Research Center and the Ministry of Health of the regions. The screening started on April 22, 2022.

The mass neonatal screening for SMA and primary immunodeficiencies allowed to identify six patients with spinal muscular atrophy. Five of them live in the Krasnodar region. More than 70 children with spinal muscular atrophy have already been registered in the region, but most of them were diagnosed after the onset of severe clinical symptoms such as gait disturbance, joint mobility impairment, and others.

Sergey Voronin, chief physician of the Research Centre for Medical Genetics: “All patients were diagnosed at the pre-symptomatic stage, in the first days after birth. This means that the treatment will bring the maximum of the possible effect. All patients underwent the necessary diagnostics, including studies to determine the number of copies of the SMN2 gene. Further treatment will be prescribed by the federal medical council. To date, three drugs for the treatment of spinal muscular atrophy have been registered in Russia, all of them show high efficiency.”

Svetlana Matulevich, head of the Kuban interregional medical genetic consultation, chief freelance geneticist of the Ministry of Health of the Krasnodar Territory: “Earlier, when we were not participants in such an important and significant project, it was difficult to identify patients with spinal muscular atrophy. In particular, the diagnosis was made after the first symptoms appeared, and parents had to go through a long path of diagnosis. But now, thanks to the early detection of the disease during mass neonatal screening, there is an opportunity for early treatment. Of course, it is difficult for every parent to accept the diagnosis, and, indeed, it causes a lot of stress. But it is important to understand that the earlier the disease is detected, the faster measures can be taken, giving each child a chance for a full life.”

A pilot screening project for spinal muscular atrophy and primary immunodeficiencies is being implemented in the Vladimir and Ryazan regions, the Krasnodar Territory and the Republic of North Ossetia-Alania. In the near future, new regions will join the project. The pilot project will prepare the entire Medical Genetic Service of Russia for the launch of expanded mass neonatal screening for 36 hereditary diseases starting from 2023.