TITLE:
Nusinersen as a Leading Therapy for Spinal Muscular Atrophy: A Bibliometric Analysis of Leading Treatments
AUTHORS:
Fatima Khan Lookmanji, Dhruva Bhat, Gavin Smith, Deeba Dinarvand, Johnny Susoeff, Sai Keerthana Beerakayala, Amanda Li, Hermione Cordeiro Larkin, Michael Yan
KEYWORDS:
Spinal Muscular Atrophy, Patient-Reported Outcomes, and Treatments
JOURNAL NAME:
Health,
Vol.17 No.10,
October
22,
2025
ABSTRACT: Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the SMN1 (survival motor neuron 1) gene, leading to muscle weakness and impaired motor function. SMA generally affects infants and children but can develop during adulthood. Well-researched treatments such as nusinersen, onasemnogene abeparvovec-xioi, and risdiplam aim to restore SMN protein and improve patient outcomes. In order to identify research trends, leading therapies, and clinical outcomes for SMA, a bibliometric analysis of the 100 most-cited articles on SMA treatments in Web of Science (WoS) was performed. Nusinersen emerged as the most frequently studied treatment, with robust evidence supporting its role in improving patient quality of life and outlook. The bibliometric insights gathered may inform future research directions and support clinicians and patients in evidence-based decision-making.