Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain

• Published in: PharmacoEconomics Vol. 40; no. Suppl 1; pp. 3 - 5
• Main Author: Skedgel, Chris
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01-04-2022; Springer; Springer Nature B.V
• Subjects: Caregivers; Costs; Drug therapy; Economic aspects; Economic models; Editorial; Health Administration; Health Economics; Humans; Life expectancy; Medical economics; Medicine; Medicine & Public Health; Muscular Atrophy, Spinal - therapy; Neuromuscular diseases; Patients; Pharmacoeconomics and Health Outcomes; Preferences; Public Health; Quality of Life Research; Spinal Muscular Atrophies of Childhood; Spinal muscular atrophy; Systematic review; Values; United Kingdom; United Kingdom > UK
• ISSN: 1170-7690; 1179-2027
• DOI: 10.1007/s40273-021-01119-1

Accepted: 21 November 2021 / Published online: 22 December 2021 © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2021 This supplement includes five papers that add to our understanding of the costs, health-related quality of life, and cost effectiveness of different treatments for spinal muscular atrophy (SMA), as well as patient preferences for treatment. SMA has received increased attention with the recent US Food and Drug Administration (FDA) and European Medicines Agency (EMA) approvals of the gene therapy Zolgensma®, described as 'the world's most expensive drug' [2], for paediatric patients with the severe SMA type 1 or up to three copies of the gene SMN2. Sample sizes are (unavoidably) small; there is a high risk of sample bias and loss to followup; there is heterogeneity in methods and samples between studies; and there is a lack of validated valuation sets for childhood versions of most generic health state descriptors. Together, these limitations mean that it is difficult to estimate the specific utility impact of SMA or new DMTs, and the authors call for researchers to more consistently integrate utility assessment into the design of clinical trials.