Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
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RCMG, SKOPINPHARM and NOVARTIS have signed a Memorandum on the launch of a pilot neonatal screening project for spinal muscular atrophy and primary immunodeficiencies

Memorandum on cooperation in the project "Neonatal screening for early diagnosing spinal muscular atrophy and primary immune deficiencies in patients in the Russian Federation" was signed between FSBI Academician N.P. Bochkov Research Centre for Medical Genetics, Novartis Pharma LLC and SCOPINPHARM LLC. The pilot project on the newborns mass screening will improve the early diagnosing of spinal muscular atrophy (SMA) and primary immune deficiencies (PID) in patients, which will have a positive impact on the patients’ routing system, will reduce disability and mortality from these diseases. They assume that the successful results of the project can be scaled up to all Russian regions in the future.

Sergey Ivanovich Kutsev, Director of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics, Chief visiting specialist in medical genetics of the Ministry of Health of Russia, “Each year an average of 170 patients are diagnosed with spinal muscular atrophy at the Bochkov Research Centre for Medical Genetics. The diagnosis of primary immune deficiency is confirmed in 15 to 20 children. Unfortunately, in most cases, the disease is detected when the first symptoms become evident which indicates that irreversible changes in the patient's body have already occurred, and severe complications have appeared.  The pilot project will cover several regions of Russia and will make it possible to identify newborns with SMA and PID during the first week after birth, the period when pathogenetic therapy can have the greatest effect. This project will become a large-scale scientific and epidemiological research, which will help to determine the incidence of SMA and PID in our country. Medical genetics sees the defining of hereditary diseases incidence and spectrum of gene mutations to be one of the fundamental criteria for quality diagnostic methods development. This study is also of great clinical importance because early diagnosis will ensure the timely initiation of treatment”.

As part of the project, more than 200,000 newborns in various regions of Russia will be screened for SMA and PID genetic variations – the severe combined immune deficiency and X-linked agammaglobulinemia. The list of regions will be determined during project preparation. The launch of neonatal screening is scheduled for the fourth quarter of 2021.

Inga Nizharadze, CEO of SCOPINPHARM LLC, “For many years our company has been one of the leaders in the pharmaceutical industry, supporting socially significant projects aimed at improving the healthcare system in Russia. We are pleased to be one of those who lead the neonatal screening project, which will speed up access to necessary treatment and dramatically change the lives of patients with spinal muscular atrophy and primary immune deficiencies in Russia.”

Introduction of the mass neonatal screening will contribute to SMA Patients Registry, which is currently being created, and will allow an in-depth analysis of the effectiveness of routing and delivery of medical care to patients in Russia.

Natalia Kolerova, General Director of Novartis Pharma LLC, President of Novartis Group in Russia, “We believe that implementation of the pilot project and prospective introduction of this practice in the Russian Federation will contribute to a fundamental change in approaches to perception and support of patients with such severe life-threatening diseases as spinal muscular atrophy and primary immune deficiencies. We hope this project will help a generation of patients with these diseases to avoid them, when they receive a therapy prior to the symptoms develop, and our company is proud to be part of this process”.