Research Centre for Medical Genetics
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Moscow 115522, Russian Federation
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22 Patients with Spinal Muscular Atrophy at the Pre-symptomatic Stage Were Identified During the RCMG Pilot Project

The pilot project of mass neonatal screening for spinal muscular atrophy (SMA) and primary immunodeficiencies started at the Research Centre for Medical Genetics in April 2022. It was joined by eight regions: Vladimirskaya, Ryazanskaya, Sverdlovskaya, Orenburgskaya Oblasts, Krasnodarskiy Krai, the Republics of Chechnya, Bashkortostan and North Ossetia - Alanya.

As of the end of December 2022, RCMG has conducted research of more than 166 thousand samples of newborn biomaterial. During the screening, a risk group was formed - children, whose study showed a high probability of the disease. There were identified mutations in the gene SMN1 to diagnose SMA in RCMG, as well as the number of copies of the gene SMN2 and the level of antibodies to the adeno-associated serotype virus 9, which is essential for the selection of a drug and the timely commencement of therapy.

In total, according to the preliminary results of the pilot project, the diagnosis of spinal muscle atrophy was confirmed in 22 newborns: seven in Krasnodarskiy Krai; six in Sverdlovskaya Oblast; in Orenburgskaya, Vladimirskaya Oblasts and in the Republic of Chechnya - two patients in each were diagnosed. In the Republics of North Ossetia-Alania and Bashkortostan, as well as in Ryazanskaya Oblast - one newborn child with spinal muscle atrophy in each was detected. The diagnosis in the screening process may already be at the pre-symptomatic stage, when the disease is not yet manifested, and the treatment will be the most effective. Medicines for children with severe life-threatening and chronic diseases, including orphan ones, are provided by the Charity Fund «The Circle of Well».

Archpriest Alexander Tkachenko, Chairman of the Board of the Fund «The Circle of Well» said:

“We highly appreciate the results of the pilot project of mass neonatal screening, which is currently being conducted in several regions, and we are looking forward to the early launching of the all-Russian programme of mass neonatal screening for 36 hereditary diseases. The programme will allow us to detect them at the pre-impact stage. This is well illustrated by SMA. In the past year, we have already received and approved the first requests for children who were diagnosed by the results of the RCMG pilot project - SMA screening and primary immunodeficiencies. As you know, the Fund provides free treatment to all children with SMA, one out of the three medications registered in Russia. Almost all newly identified patients with SMA, except for those with specific contraindications, today receive from the Fund exactly the genotherapeutic medication. According to the results of the screening children, we hope, will be provided with treatment until the appearance of the smallest symptoms of the disease, and especially before disability”.

The experience gained during the pilot project made it possible to prepare medical organizations involved in mass neonatal screening for 36 hereditary diseases and groups of hereditary diseases for its launch in all regions of Russia.

Advanced neonatal screening began in late 2022. In Russia, 10 centres for advanced neonatal screening have been established in Ufa, Irkutsk, Krasnodar, Saint Petersburg, Yekaterinburg, Tomsk, Rostov-on-Don and three centres in Moscow. The Research Centre for Medical Genetics is responsible for providing a reference centre for advanced mass neonatal screening, whose specialists determine the final diagnosis of hereditary disease and provide organizational and methodological guidance for medical organizations conducting screening.