10 newborns with spinal muscular atrophy (SMA) were identified as part of a pilot project of mass neonatal screening for spinal muscular atrophy and primary immunodeficiencies

6 patients diagnosed with spinal muscular atrophy were identified in Krasnodar. One patient was identified in Vladimir, two were identified in Orenburg, and 1 newborn with SMA was diagnosed in Yekaterinburg.

Sergey Voronin, chief physician of the Research Centre for Medical Genetics: “All patients who were at risk based on the results of mass neonatal screening underwent additional diagnostic tests. They had a confirmed deletion of the SMN1 gene that encodes a protein responsible for the viability of motor neurons. Mutations of this gene are responsible for decreased production of the functional protein comparing to the required amount. Motor neurons die rapidly, and the clinical picture of spinal muscular atrophy develops. Additionally, the number of copies of the SMN2 pseudogene and the level of antibodies for adeno-associated virus serotype 9 were determined in all patients.”

All identified patients will be provided with treatment due to the “Krug Dobra” Foundation. Alexander Tkachenko, Chairman of the Board of the “Krug Dobra” Foundation: “We highly appreciate the results of the pilot project of mass neonatal screening, which is currently underway in several regions. We look forward to launching a nationwide program of mass neonatal screening for 36 hereditary diseases in the near future. The program will allow to identify these diseases even at the pre-symptomatic stage. This is clearly seen in the example of SMA. We have already received the first demands for help from families with children diagnosed based on the results of the screening pilot project of the Research Centre for Medical Genetics. As you know, the Foundation provides free treatment for all children with SMA with one of the three drugs registered in Russia. Almost all newly diagnosed patients with SMA receive a gene therapy drug from the Foundation today. We hope, that screening results will help us to provide children with treatment before the earliest symptoms of the disease appear, not mentioning disability stages of diseases.”

The early start of therapy, before the first symptoms appear, depends not only on early diagnosis, but also on the timing of the transfer of documents from the regions to the “Krug Dobra” Foundation. The pilot project of the Research Centre for Medical Genetics makes it possible to detect the disease in a timely manner. However, the problem of document flow must be solved today, in order to provide newborns with the necessary treatment.

Sergey Kutsev, Director of the Research Centre for Medical Genetics, chief freelance specialist in medical genetics of the Ministry of Healthcare of the Russian Federation, sees the solution to the problem in the creation of specialized departments. These departments should be created in the regional ministries of healthcare and health departments of the subjects of the Russian Federation and should collaborate with the “Krug Dobra” Foundation.

- Today, only one specialist each department is responsible for working with the fund, and this is not enough. It is necessary to create entire departments that would deal with orphan pathology in general, not being limited only by interaction with the “Krug Dobra” Foundation. Their functioning should include diagnostics, treatment, and rehabilitation. Full assistance can be organized effectively using a multidisciplinary approach only. For example, spinal muscular atrophy is characterized by involvement of many systems, patients develop problems with digestion, breathing, and the musculoskeletal system, they need assistance of doctors of various profiles. But in many subjects of the Russian Federation today little is known about how to deliver comprehensive care to patients. A multidisciplinary approach is possible only if regional ministries and departments can accumulate the efforts of specialists in various fields to help orphan patients, Sergey Kutsev said.

The pilot project of neonatal screening for spinal muscular atrophy and primary immunodeficiencies, supported by Novartis and Skopinfarm, continues. To date, the Research Centre for Medical Genetics has already conducted a study of over 50,000 samples of newborn biomaterial. A total of 200,000 children will be studied as part of the pilot project.