Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Jun 26.
doi: 10.1007/s10198-025-01806-2. Online ahead of print.

Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy

Ilaria Valentini  1   2 , Gianni Ghetti  3 , Marika Pane  4   5 , Filippo Rumi  6   7 , Eugenio Di Brino  6   7 , Michele Basile  6   7 , Gabriele Maria Pistillo  8 , Matthias Bischof  8
Affiliations

Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy

Ilaria Valentini et al. Eur J Health Econ. .

Abstract

Objective: We assessed the cost effectiveness of onasemnogene abeparvovec (OA) for presymptomatic infants with two or three copies of the survival motor neuron 2 (SMN2) gene (diagnosed/treated ≤ 6 weeks old) who lack functional SMN1 gene (biallelic SMN1 mutations). This cost-utility model compared three disease-modifying treatments and best supportive care (BSC) (scenario analysis) in an Italian setting.

Methods: For a cohort of 1000 children, a Markov model simulated costs and benefits of OA (a one-time treatment), nusinersen and risdiplam (continuous lifelong treatments), and BSC. A lifetime time horizon (up to age 100 years) was applied, and the perspective of the Italian National Health Service was considered. Results are reported as incremental cost-effectiveness ratios (ICERs). Deterministic and probabilistic sensitivity analyses were conducted to assess the robustness of the model and validity of results.

Results: In the full cohort, OA was dominant (less costly, more effective) compared with nusinersen or risdiplam (ICERs,-€4,562,815 and-€718,640), and cost effective (more costly, more effective) compared with BSC (ICER, €65,894). Similar results were found for patients with two SMN2 copies. For patients with three SMN2 copies, OA was less costly, with a similar efficacy profile compared with nusinersen, dominant versus risdiplam, and cost effective compared with BSC. Probabilistic sensitivity analysis demonstrated the robustness of the model and validated deterministic sensitivity analysis results for the full cohort.

Conclusions: OA for the treatment of presymptomatic newborns was dominant or cost effective compared with other treatments or BSC in the full patient cohort within the Italian context.

Keywords: Cost-effectiveness analysis; Economic evaluation; Newborn screening; Onasemnogene abeparvovec; Presymptomatic newborns; Spinal muscular atrophy.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethical approval: As no new studies with human participants were included in this analysis, Institutional Review Board approval was not required, patient consent to participate was not necessary, and the Declaration of Helsinki 1964 does not apply. Conflict of interest: Gianni Ghetti is an employee of AdRes HEOR s.r.l., which has received project funding from Novartis Gene Therapies, Inc./Novartis Pharma AG. Marika Pane was supported by Novartis for this study. Matthias Bischof is an employee of Novartis Pharma AG, Basel, Switzerland, and owns Novartis stock or other equities. Gabriele Maria Pistillo is an employee of Novartis Pharma AG, Basel, Switzerland, and owns Novartis stock or other equities. Filippo Rumi, Ilaria Valentini, Eugenio Di Brino, and Michele Basile do not have any conflicts of interest to disclose.

References

    1. Kolb, S.J., Kissel, J.T.: Spinal muscular atrophy. Neurol. Clin. 33(4), 831–846 (2015). https://doi.org/10.1016/j.ncl.2015.07.004 - DOI - PubMed - PMC
    1. D’Amico, A., Mercuri, E., Tiziano, F.D., Bertini, E.: Spinal muscular atrophy. Orphanet J. Rare Dis. 6, 71 (2011). https://doi.org/10.1186/1750-1172-6-71 - DOI - PubMed - PMC
    1. Verhaart, I.E., Robertson, A., Wilson, I.J., Aartsma-Rus, A., Cameron, S., Jones, C.C., Cook, S.F., Lochmüller, H.: Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy–a literature review. Orphanet J. Rare Dis. 12(1), 124 (2017). https://doi.org/10.1186/s13023-017-0671-8 - DOI - PubMed - PMC
    1. Ogino, S., Leonard, D.G.B., Rennert, H., Ewens, W.J., Wilson, R.B.: Genetic risk assessment in carrier testing for spinal muscular atrophy. Am. J. Med. Genet. 110(4), 301–307 (2002). https://doi.org/10.1007/s00439-002-0828-x - DOI - PubMed
    1. Vill, K., Kölbel, H., Schwartz, O., Blaschek, A., Olgemöller, B., Harms, E., Burggraf, S., Röschinger, W., Durner, J., Gläser, D., Nennstiel, U., Wirth, B., Schara, U., Jensen, B., Becker, M., Hohenfellner, K., Müller-Felber, W.: One year of newborn screening for SMA– results of a German pilot project. J. Neuromuscul. Dis. 6(4), 503–515 (2019). https://doi.org/10.3233/JND-190428 - DOI - PubMed - PMC

LinkOut - more resources