Ten cases of SMA in newborns were identified as part of a pilot project of neonatal screening for SMA and primary immunodeficiency (PID). This was reported in the press service of N. P. Bochkov Research Centre of Medical Genetics (RCMG).
Six patients were diagnosed with SMA in Krasnodar, one in Vladimir, two in Orenburg, and one in Yekaterinburg.
Sergey Voronin, Chief Physician of RCMG: “All patients who were at risk according to the results of neonatal screening underwent additional diagnostic tests. They were found to have a deletion of the SMN1 gene that encodes the protein responsible for the viability of motor neurons. As a result of mutations of this gene, the body does not produce the right amount of functional protein. Motor neurons die within a short time frame, and the patient develops the clinical features of spinal muscular atrophy. Also, the number of copies of SMN2 pseudogene was determined in all patients, as well as the level of antibodies to adeno-associated virus (AAV) serotype 9.”
The Circle of Kindness Foundation is going to ensure that all identified patients will be provided with treatment. Aleksander Tkachenko, the Chairman of the Board of the Circle of Kindness Foundation: “We highly appreciate the results of the pilot project of neonatal screening, which is currently being conducted in several regions, and we are waiting for the launch of the all-Russian program of neonatal screening for 36 hereditary diseases in the near future. The program will make it possible to identify them even at the pre-symptomatic stage. SMA is a good example of this. We have already received the first applications for help from families in which children were diagnosed based on the results of the RCMG pilot project of screening for SMA and primary immunodeficiency. As you know, the foundation provides free treatment for all children with SMA with the provision of one of the three drugs registered in Russia. Almost all newly identified patients with SMA now receive gene therapy products from the Foundation. We hope that the children who were diagnosed based on the results of the screening will be provided with treatment before they develop even the slightest symptoms of the disease so that it does not lead to disability.”
The early start of therapy, before the first symptoms, is conditional not only on early diagnosis, but also on the timing of the submission of documents from the regions to the Circle of Kindness Foundation. RCMG’s pilot project makes it possible to detect the disease in a timely manner. However, in order to provide newborns with the necessary treatment, it is necessary to solve the problem of document management now.
Sergey Kutsev, Director of the RCMG, chief consultancy specialist in medical genetics of the Ministry of Health of the Russian Federation, believes that the solution to the problem is in the creation of specialized departments to work with the Circle of Kindness Foundation in the regional ministries of health and health departments of Russian regions.
“Today there is not enough to have one specialist in an agency responsible for working with the Foundation. It is necessary to create departments that would deal with orphan pathology in general, not limiting their activities only to interaction with the Circle of Kindness, but also dealing with the diagnostics, treatment, and rehabilitation. Medical care can only be effective if based on a multidisciplinary approach. For example, SMA affects many systems, so that the patient develops issues with digestion, breathing, and musculoskeletal system, and help from various specialists is required. But in many regions there is still no awareness of the issue and of the ways in which comprehensive support may be provided to such patients. A multidisciplinary approach is possible only if regional ministries and departments can bring together specialists in different fields, who would join their efforts to help orphan patients,” Sergey Kutsev said.
The pilot project of neonatal screening for SMA and primary immunodeficiency, supported by Novartis and Skopinfarm, continues. To date, the RCMG has already tested more than 50,000 biomaterial samples collected from newborns. A total of 200,000 children will take part in the pilot project.
