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Neurodegeneration
Original research
Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis
  1. Sophy TF Shih1,
  2. Michelle Anne Farrar2,3,
  3. Veronica Wiley4,
  4. Georgina Chambers3,5
  1. 1 Kirby Institute, University of New South Wales, Sydney, New South Wales, Australia
  2. 2 Neurology, Sydney Children's Hospital Network, Randwick, New South Wales, Australia
  3. 3 School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia
  4. 4 NSW Newborn Screening Programme, Children's Hospital at Westmead, Westmead, New South Wales, Australia
  5. 5 Centre for Big Data Research in Health, University of New South Wales, Sydney, New South Wales, Australia
  1. Correspondence to Dr Sophy TF Shih, Kirby Institute, University of New South Wales, Sydney, New South Wales, Australia; sshih{at}kirby.unsw.edu.au

Abstract

Objective To assess cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) and early treatment with nusinersen or onasemnogene abeparvovec (gene therapy), compared with nusinersen without SMA screening.

Methods Informed by an Australian state-wide SMA NBS programme, a decision analytical model nested with Markov models was constructed to evaluate costs and quality-adjusted life-years (QALYs) from a societal perspective with sensitivity analyses.

Results By treating one presymptomatic SMA infant with nusinersen or gene therapy, an additional 9.93 QALYs were gained over 60 years compared with late treatment in clinically diagnosed SMA. The societal cost was $9.8 million for early nusinersen treatment, $4.4 million for early gene therapy and $4.8 million for late nusinersen treatment. Compared with late nusinersen treatment, early gene therapy would be dominant, gaining 9.93 QALYs while saving $360 000; whereas early nusinersen treatment would result in a discounted incremental cost-effectiveness ratio (ICER) of $507 000/QALY.

At a population level, compared with no screening and late treatment with nusinersen, NBS and early gene therapy resulted in 0.00085 QALY gained over 60 years and saving $24 per infant screened (85 QALYs gained and $2.4 million saving per 100 000 infants screened). More than three quarters of simulated ICERs by probability sensitivity analyses showed NBS and gene therapy would be dominant or less than $50 000/QALY, compared with no screening and late nusinersen treatment.

Conclusion NBS coupled with gene therapy improves the quality and length of life for infants with SMA and would be considered value-for-money from an Australian clinical and policy context.

Data availability statement

Data are available upon reasonable request. All data relevant to the study are included in the article. This paper reports the modelling cost-effectiveness with published study results and statistics from the pilot study. Data sources of the model parameters are presented in Table 1.

https://doi.org/10.1136/jnnp-2021-326344

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    Data availability statement

    Data are available upon reasonable request. All data relevant to the study are included in the article. This paper reports the modelling cost-effectiveness with published study results and statistics from the pilot study. Data sources of the model parameters are presented in Table 1.

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    Footnotes

    • Twitter @SophyShih, @imichellefarrar

    • Contributors STFS: study design, model construction, data analysis and interpretation, preparation and critical review of the manuscript. MAF: study conceptualisation, study design, data interpretation, manuscript preparation and critical review of the manuscript. VW: data collection, critical review of the manuscript. GC: study conceptualisation, study design, data interpretation, manuscript preparation and critical review of the manuscript.

    • Funding The NSW Pilot NBS study (no award/grant number) was funded by Luminesce Alliance, a not-for-profit cooperative joint venture across the Sydney Children’s Hospital Network, Children’s Medical Research Institute and Children’s Cancer Institute, established with the support of the NSW Government. Luminesce Alliance is also affiliated with UNSW Sydney and The University of Sydney.

    • Disclaimer These funding bodies had no role in the design of the study, data collection, data analysis, manuscript design, preparation of the manuscript or decision to publish. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

    • Competing interests MAF has received compensation as a member of the scientific advisory board for Biogen, Roche and AveXis. This study received funding from Luminesce Alliance, a not-for-profit cooperative joint venture across the Sydney Children’s Hospital Network, Children’s Medical Research Institute and Children’s Cancer Institute, established with the support of the NSW Government.

    • Provenance and peer review Not commissioned; externally peer reviewed.

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