scholarly journals Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy

2013 ◽  
Vol 161 (4) ◽  
pp. 679-686 ◽  
Author(s):  
Erin Rothwell ◽  
Rebecca A. Anderson ◽  
Kathryn J. Swoboda ◽  
Louisa Stark ◽  
Jeffrey R. Botkin
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
Public Attitudes

scholarly journals Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

2017 ◽  
Vol 20 (6) ◽  
pp. 608-613 ◽  
Author(s):  
Jennifer N Kraszewski ◽  
Denise M Kay ◽  
Colleen F Stevens ◽  
Carrie Koval ◽  
Bianca Haser ◽  
...  
Keyword(s):  
New York ◽  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
New York State ◽  
Population Based ◽  
York State

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

Integrating a Pilot Newborn Screening for Spinal Muscular Atrophy Into the Australian Public Healthcare System

2021 ◽  
Author(s):  
Arlene M. D'Silva ◽  
Hugo Sampaio ◽  
Didu Sanduni Thamarasa Kariyawasam ◽  
David Mowat ◽  
Jacqui Russell ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Healthcare System ◽  
Muscular Atrophy ◽  
Public Healthcare ◽  
Public Healthcare System

Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study

2019 ◽  
Vol 6 (1) ◽  
pp. 109-117 ◽  
Author(s):  
Sally Dunaway Young ◽  
Jacqueline Montes ◽  
Samantha S. Kramer ◽  
Bernadette Podwika ◽  
Ashwini K. Rao ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
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.

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