SMArt Retro study: a retrospective data analysis of the Russian registry of patients with spinal muscular atrophy

Abstract

Background. Existing registries of patients with spinal muscular atrophy (SMA) 5q serve as a valuable source of information on identified patients. Information on the characteristics of Russian patients with SMA 5q and the therapy administered in real clinical practice is currently limited.Aim. To describe a cohort of Russian patients with a confirmed diagnosis of SMA 5q and to evaluate patient routing data in real clinical practice settings in Russia.Materials and methods. The present study was a descriptive non-interventional retrospective cohort study in patients diagnosed with SMA 5q who were enrolled in the Russian patient registry between January 1, 2020 and March 31, 2023. Study participants who met the inclusion criteria were automatically identified in the integrated database of the SMA 5q patient registry. Data were uploaded into validated electronic charts, verified and analyzed using descriptive statistics methods. Results. As of March 31, 2023, the Russian SMA registry contained information on 1408 patients from all federal districts and obtained epidemiological, sociodemographic and clinical characteristics of patients, as well as routes to diagnosis and treatment regimens for patients. The median time from disease onset to confirmed diagnosis was 3 months in patients with SMA type 1, 9 months in patients with SMA type 2, 20 months in patients with SMA type 3 and 68 months in patients with SMA type 4. The median time from confirmed diagnosis to the start of disease-modifying therapy was 0.5 months in SMA patients identified by neonatal screening, 21 months in patients with SMA type 1, 59 months in patients with SMA type 2, 47 months in patients with SMA type 3 and 87 months in patients with SMA type 4.Conclusion. This retrospective analysis was carried out in order to identify recent approaches to the diagnosis and treatment of SMA used in real-world clinical practice in Russia. The identified parameters (duration from the disease onset to confirmed diagnosis, duration from the confirmed diagnosis to disease-modifying therapy initiation) indicate that more widespread use of newborn screening and more rapid treatment initiation are unmet needs for SMA patients in Russia.

Keywords

• spinal muscular atrophy 5q
• demographic characteristics
• detection rate
• prevalence
• genetic testing
• diagnostic delay
• neonatal screening