Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy

2021 ◽  
pp. jnnp-2021-327459
Author(s):  
Thomas H Gillingwater
Keyword(s):  
Gene Therapy ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy

Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis

2021 ◽  
pp. jnnp-2021-326344
Author(s):  
Sophy TF Shih ◽  
Michelle Anne Farrar ◽  
Veronica Wiley ◽  
Georgina Chambers
Keyword(s):  
Gene Therapy ◽  
Cost Effectiveness ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Markov Models ◽  
Muscular Atrophy ◽  
Early Gene ◽  
Sensitivity Analyses ◽  
Life Years ◽  
Late Treatment

ObjectiveTo 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.MethodsInformed 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.ResultsBy 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.ConclusionNBS 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.

scholarly journals Industry update for May 2019

2019 ◽  
Vol 10 (9) ◽  
pp. 555-561
Author(s):  
Louise Rosenmayr-Templeton
Keyword(s):  
Gene Therapy ◽  
Cost Effectiveness ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Clinical Results ◽  
The Other ◽  
Press Releases ◽  
The Us ◽  
True Meaning ◽  
Genetic Medicine

This industry update features a round-up of pharmaceutical news in May 2019 based on press releases and websites. The month was characterized by the achievement of significant milestones in gene therapy. The biggest of these was the US FDA’s approval of Zolgensma®. This medicine sums up the promise and price of genetic medicine. On one hand the clinical results show Zolgensma can dramatically improve the prognosis for infants with spinal muscular atrophy after just one administration, while on the other, it has been priced at around US$2.1 million. With more such therapies likely to reach the market, the debate on Zolgensma goes beyond cost, to overall affordability, the true meaning of cost–effectiveness and how to reward companies for effective, innovative medicines.

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

2015 ◽  
Vol 39 (3) ◽  
pp. 217-229 ◽  
Author(s):  
Han C. Phan ◽  
Jennifer L. Taylor ◽  
Harry Hannon ◽  
Rodney Howell
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy

Clinical Experience with Gene Therapy in Older Spinal Muscular Atrophy Patients

2021 ◽  
Author(s):  
Susan E. Matesanz ◽  
Vanessa Battista ◽  
Jean Flickinger ◽  
Jennifer N. Jones ◽  
Elizabeth A. Kichula
Keyword(s):  
Gene Therapy ◽  
Spinal Muscular Atrophy ◽  
Clinical Experience ◽  
Muscular Atrophy
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