Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Abstract

AIM: To review barriers to ethical and equitable access to disease-modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). METHOD: We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for content on the ethics or equity of access to SMA DMTs or NBS from January 2014 to May 2025. Only evidence sources that had a primary focus on equity or ethics regarding access to either DMTs or NBS for children aged less than 18 years were eligible. RESULTS: Forty publications were included: all but one were published in English; three-quarters were published after 2020 and were either narrative reviews (45%) or cross-sectional studies (35%). The largest proportion were from North America (40%) and only three (7%) offered commentary on low- and middle-income countries. Inequity in access to SMA DMTs and NBS were consistently reported to persist even within countries due to multiple factors, which include variation in health system resources and funding mechanisms. Lack of robust clinical data on the long-term safety, efficacy, and cost-effectiveness of DMTs hampers advocacy efforts, particularly in resource-constrained settings. Questions remain around autonomy and distributive justice in diagnosis and care for this ultra-rare disease. INTERPRETATION: A decade after the approval of clinically transformative therapies, children with SMA continue to fall on the wrong side of an avoidable divide. Urgent and coordinated action is needed to establish regulated minimum clinical standards, generate robust real-world data, and redesign funding models to ensure that NBS and treatment innovation serves all populations, not only those with politico-economic advantage.