scholarly journals Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy

2020 ◽  
Vol Volume 10 ◽  
pp. 39-47
Author(s):  
Maria Jędrzejowska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
Presymptomatic Diagnosis

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

2017 ◽  
Vol 190 ◽  
pp. 124-129.e1 ◽  
Author(s):  
Yin-Hsiu Chien ◽  
Shu-Chuan Chiang ◽  
Wen-Chin Weng ◽  
Ni-Chung Lee ◽  
Ching-Jie Lin ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
Presymptomatic Diagnosis

'We Needed This': Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy

2020 ◽  
Author(s):  
Didu Sanduni Thamarasa Kariyawasam ◽  
Arlene M. D'Silva ◽  
Janine Vetsch ◽  
Claire Wakefield ◽  
Veronica Wiley ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Healthcare Professionals ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Newborn Screening Program

scholarly journals PND5 Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in the United States

2020 ◽  
Vol 22 ◽  
pp. S75
Author(s):  
R. Arjunji ◽  
J. Zhou ◽  
A. Patel ◽  
M.L. Edwards ◽  
M. Harvey ◽  
...  
Keyword(s):  
United States ◽  
Cost Effectiveness ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
The United States ◽  
Cost Effectiveness Analysis ◽  
Effectiveness Analysis

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

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.

P.211Pilot study of genetic newborn screening for spinal muscular atrophy in Germany: clinical results after more than a year

2019 ◽  
Vol 29 ◽  
pp. S128
Author(s):  
W. Mueller-Felber ◽  
H. Kölbel ◽  
O. Schwartz ◽  
A. Blaschek ◽  
B. Olgemüller ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
Clinical Results
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