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Since 2016/17, three disease-modifying therapies for spinal muscular atrophy (SMA) have entered clinical practice, driving newborn screening to improve health outcomes. SMA registries have been crucial in tracking new phenotypes, treatment patterns, epidemiology, genotype-phenotype correlations, and patient experiences in this evolving landscape. This review examines their utility and importance.
By 2024, over 35 national registries catalog more than 8,000 individuals, with advocacy groups and pharmaceutical companies compiling data on over 10,000 more. Registries support clinical trials, track SMA incidence and prevalence, establish natural history data, contribute to drug surveillance, assess treatment effectiveness, and capture patient-reported outcomes.
Despite their broad utility, challenges include data fragmentation, quality, sharing, and resource constraints. Enhancing their value requires collaboration, interoperability, standardized data collection, and public involvement.
As new phenotypes and unmet needs emerge, registries remain essential for advancing knowledge and addressing patient priorities. Read the full article here.