SMA: Russia's path from emergency response to a systemic model of care

The session "Spinal Muscular Atrophy (SMA)" II CIS Orphan Forum | Moscow, June 27, 2025 was attended by experts from Armenia, Belarus, Russia and Uzbekistan.

Moderator:

• Sergey Nikolaevich Illarioshkin is a professor, academician of the Russian Academy of Sciences, director of the Brain Institute of the Russian Center for Neurology and Neuroscience, head of the Department of Neurology at the Russian University of Medicine.

Professor Illarioshkin emphasized that over the past 6 years, an almost optimal model of care for patients with SMA has been built in Russia:

• All three pathogenetic drugs have been introduced through early access programs
• National neonatal screening for SMA has been launched: in 2023, more than 1.2 million newborns (98% of the number of births) will be covered. 121 cases detected with an estimated 156 — high reliability
• The Circle of Goodness Foundation was created, ensuring the availability of drug therapy for children
• Clinical guidelines for children and adults were developed
• Domestic drugs appeared, including the world's first generic of nusinersen — Lantessens®
• As of June 2025, Lantessens® was received by 457 patients in 69 regions (374 children and 83 adults).

However, challenges remain:

• Screening does not cover heterozygotes, complex rearrangements, children born before 2023.
• Diagnosis of SMA type 2  is diagnosed on average after 35 months, SMA 4 - after 108
• erroneous diagnoses, atypical manifestations, late access to therapy in adults
• lack of continuity in the transition to adult service
• Litigation arises over the provision of therapy

Priorities for the near future:

• Support and develop multidisciplinary teams (pediatricians, pulmonologists, orthopedists, rehabilitation specialists, palliative services)
• Strengthen the training of adult neurologists in rare neurogenetic diseases
• Ensure a sustainable mechanism for the transition from pediatric to adult service without losing the quality of care
• Expand the criteria for access to therapy - by diagnosis, not by symptom disability

Olga Yuryevna Germanenko, founder and director of the SMA Families Foundation, vice-president of the international Association of patient organizations "SMA Europe", presented the key data of the registry: Theregister (patient-reported) has been maintained for more than 10 years. 

As of May 2025:

1,539 patients: 1,006 children (66%), 533 adults (34%)

Therapy is received by: children - 97%, adults (over 19 years old) - 81%

•  – motor functions (sitting, standing, walks)
•  – SMA type, number of SMN2 copies
•  – therapy history, transitions between drugs

The registry is not dynamic, but provides objective data for calculating coverage and availability.

• legislative gaps: if there is no disability after 19 years, access to therapy is limited
• It is necessary to move to the model of "access by diagnosis", not by disability
• The growth of the adult cohort is associated with increased trust and awareness (many learn about therapy 10-20 years after diagnosis)
• Partial outflow from the register is associated with the position on generics (some patients have mistrust of reproduced drugs), and the Fund advocates for generics if their safety and effectiveness are proven.

This session showed that Russia has built a unique model - from point solutions to a formalized state system. But maturity requires overcoming barriers - especially for adult patients. Key guidelines: continuity, equal access, multidisciplinarity.