SMA: experience of the Republic of Armenia, Belarus and Uzbekistan |II CIS Orphan Forum|Moscow, June 27, 2025

The issues of availability of therapy, development of registries, the role of charitable initiatives and the potential for intercountry cooperation were discussed.

Republic of Armenia

• Gasparyan Nadezhda Valerievna, Medical Center "Arabkir" of the Institute of Child and Adolescent Health

Availability of therapy:

• There is no neonatal screening for SMA
• None of the modern pathogenetic drugs are registered
• Treatment is not available in the country - families are forced to seek medical help abroad

Diagnostics:

• There are several specialized diagnostic centers
• 222 patients have been identified in the Center for Medical Genetics and Primary Health Care over 20 years

• The main focus is on prenatal and preimplantation diagnostics
• Patients are accompanied by individual doctors and specialists - there is no systemic support
• Only individual patients receive medications - at the expense of charitable foundations

• Representatives of Armenia expressed hope for the development of cooperation with medical centers of the CIS, which could accept children for treatment regardless of citizenship.

Republic of Belarus

• Elena Anatolyevna Kalinina, Deputy Director of the State Institution Republican Scientific and Practical Center "Mother and Child"

• Since 2021, a department for hereditary neuromuscular diseases has been operating at the Mother and Child Republican Scientific and Practical Center
• A registry is maintained that includes 98 children with SMA
• Adult patients are monitored at a specialized neurology center
• Diagnostics are free, including molecular genetic methods

• All three drugs (Zolgensma, Spinraza, Risdiplam) are registered and included in the list of orphan diseases and drugs
• However, there is no sustainable government funding, and treatment is not available to most patients
• A charity fund was opened in 2023 account, which is used to purchase drugs, primarily Zolgensma, for a limited number of children
• Decisions on provision are made by the Republican Council

• The concept for launching neonatal screening has been approved
• Implementation is expected closer to 2030

• The patient organization "Genome" plays an active role, interacting with doctors and government agencies.

Republic of Uzbekistan

• Saifutdinov Zainitdin Asamutdinovich, Deputy Director of the Republican Specialized Scientific and Practical Center for Pediatrics

• Over the past 3 years, a comprehensive model of care for patients with SMA has been built
• About 295 patients have been officially registered
• In 2022, a presidential decree was signed on free provision of pathogenetic therapy for children
• 76 patients received treatment in the first year

• The main drug is Risdiplam
• Negotiations are underway to register Spinraza and Zolgensma

• All patients are referred to a specialized department of the Republican Psychoneurological Hospital named after Kurbanova
• Molecular diagnostics laboratories are being developed in the regions (Tashkent, Fergana, Samarkand)
• Screening is being implemented among pregnant women from the risk group

• The SMA-Umid charity fund is actively working
• Annual trainings for parents are being held, including with the participation of specialists from Russia

Conclusions of the session:

The CIS countries are forming an aid infrastructure, but access to treatment remains uneven. Participants emphasized the importance of:

• early access mechanisms
• institutional support for families
• sustainable sources of funding
• opportunities for therapy outside the country of origin
• and the formation of a network of intercountry interactions.