University continues efforts on producing genetic remedy for spinal muscular atrophy

An agreement has been signed with R-Pharm to produce the drug.

Spinal muscular atrophy is a rare genetic disorder caused by the malfunctioning of the SMN1 gene, which is responsible for the formation of a special protein in motor neurons. Disruption of this gene leads to motor neuron degeneration and death, which in turn causes progressive muscle atrophy and associated complications. SMA is a grave ailment, and in most cases patients who have not received the necessary treatment in a timely manner become disabled.

The new therapy uses adeno-associated virus as a vector for SMN1 delivery into motor neurons. The body then starts producing the necessary proteins, which may result in significant improvements for patients.

Director of KFU’s Center of Excellence in Personalized Medicine Albert Rizvanov notes that SMA is one of orphan diseases, so called because of their rarity. Although SMA directly affects only a small fraction of the population, orphan diseases in total – of which there are over 7 thousand – affect about 8 percent of all people.

According to him, the new drug can drastically reduce SMA treatment costs and healthcare workload because patients may no longer need long-term care and support. The partnership between KFU and R-Pharm can become a success story in cooperation between science and the industry in innovative medications.

Vice-President for Strategic Marketing and Product Portfolio of R-Pharm Anastasia Batrak notes, “SMA is serious disease affecting patients and their families. Since 2023, it has been included into specialized neonatal screening programs in Russia. This will help diagnose and treat the ailment at the earliest possible time. The Kazanian scientists’ work gives children with SMA a new hope for a healthy life.