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<p><b>Objective.</b> To compare public costs associated with the treatment of patients with four copies of the <i>SMN2</i> gene using presymptomatic treatment versus initiation of therapy after symptom onset in the Russian Federation (RF) healthcare system. <b>Materials and Methods.</b> We present a mathematical model for estimating costs on initiation of pathogenetic (risdiplam, nusinersen) or etiopathogenetic (onasemnogene abeparvovec) therapy before and after the onset of symptoms of spinal muscular atrophy (SMA). Published data suggest that early treatment reduces the risk of irreversible complications by 40 percentage points. In addition to the costs of drug therapy, reductions in the need for technical rehabilitation equipment, rehabilitation measures, and indirect costs (GDP losses due to a decrease in labor supply of one of the parents in favor of caring for the patient in the event of irreversible complications) were taken into account. The analysis was performed using a cohort of neonates diagnosed with SMA with four copies of the <i>SMN2</i> gene in 2023 as a result of expanded neonatal screening for hereditary diseases in the Russian Federation. The study horizon will be 19 years, as the Circle of Kindness Foundation currently provides treatment for patients with SMA until this age. The Circle of Kindness Foundation was established in 2021 to organize and finance medical care for children with severe life-threatening and chronic diseases, including orphan diseases. The Russian Ministry of Health acts as founder of the Foundation on behalf of the Russian Federation. The primary source of funding for medical care by the Circle of Kindness Foundation is an elevated income tax rate for individuals. <b>Results.</b> The estimated cohort size of patients with four copies of the <i>SMN2</i> gene diagnosed on the basis of neonatal screening results is 34 individuals per year. Due to savings in direct medical costs (associated with disease progression) and indirect economic costs, the scenario of presymptomatic initiation of treatment for this cohort is characterized by reductions in costs as compared with the scenario of treatment after onset of symptoms: by RUB 21.3 million for nusinersen, RUB 371.8 million for risdiplam, and RUB 1,106.6 million for onasemnogene abeparvovec, calculated for this cohort of patients over the analysis horizon. <b>Conclusions.</b> Presymptomatic initiation of SMA therapy among patients with four copies of <i>SMN2</i> over the 19-year horizon will allow a reduction in overall treatment costs for the cohort of patients diagnosed as a result of screening.</p>

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Pharmacoeconomic Evaluation of the Treatment of Spinal Muscular Atrophy in Patients with Four Copies of the SMN2 Gene Diagnosed Through Neonatal Screening

  • 期刊论文

  • 发表日期：

    2026年7月27日

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  • N. A. Avxentyev,
  • A. S. Makarov,
  • O. Yu. Germanenko,
  • D. V. Vlodavets,
  • L. M. Kuzenkova

摘要

Objective. To compare public costs associated with the treatment of patients with four copies of the SMN2 gene using presymptomatic treatment versus initiation of therapy after symptom onset in the Russian Federation (RF) healthcare system. Materials and Methods. We present a mathematical model for estimating costs on initiation of pathogenetic (risdiplam, nusinersen) or etiopathogenetic (onasemnogene abeparvovec) therapy before and after the onset of symptoms of spinal muscular atrophy (SMA). Published data suggest that early treatment reduces the risk of irreversible complications by 40 percentage points. In addition to the costs of drug therapy, reductions in the need for technical rehabilitation equipment, rehabilitation measures, and indirect costs (GDP losses due to a decrease in labor supply of one of the parents in favor of caring for the patient in the event of irreversible complications) were taken into account. The analysis was performed using a cohort of neonates diagnosed with SMA with four copies of the SMN2 gene in 2023 as a result of expanded neonatal screening for hereditary diseases in the Russian Federation. The study horizon will be 19 years, as the Circle of Kindness Foundation currently provides treatment for patients with SMA until this age. The Circle of Kindness Foundation was established in 2021 to organize and finance medical care for children with severe life-threatening and chronic diseases, including orphan diseases. The Russian Ministry of Health acts as founder of the Foundation on behalf of the Russian Federation. The primary source of funding for medical care by the Circle of Kindness Foundation is an elevated income tax rate for individuals. Results. The estimated cohort size of patients with four copies of the SMN2 gene diagnosed on the basis of neonatal screening results is 34 individuals per year. Due to savings in direct medical costs (associated with disease progression) and indirect economic costs, the scenario of presymptomatic initiation of treatment for this cohort is characterized by reductions in costs as compared with the scenario of treatment after onset of symptoms: by RUB 21.3 million for nusinersen, RUB 371.8 million for risdiplam, and RUB 1,106.6 million for onasemnogene abeparvovec, calculated for this cohort of patients over the analysis horizon. Conclusions. Presymptomatic initiation of SMA therapy among patients with four copies of SMN2 over the 19-year horizon will allow a reduction in overall treatment costs for the cohort of patients diagnosed as a result of screening.