Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT

What this Trial Is About

Researchers are studying perceived physical fatigability in adolescents and adults with spinal muscular atrophy (SMA) who are treated with nusinersen. Fatigue and physical tiredness are common in people with SMA, even though nusinersen helps improve survival and motor function. This research aims to better understand how people with SMA feel when completing daily activities and how their fatigability changes before and after nusinersen treatment using a new SMA-specific patient-reported outcome measure called the SMA EFFORT. The study is observational and involves participants grouped based on their mobility: those who can walk without help, those who cannot walk but can sit independently, and those who cannot sit without assistance. Researchers will assess perceived physical fatigability at baseline, one week, and one month. Secondary measures include tests of upper limb function, motor skills, walking endurance, chewing endurance, and hand dexterity, all conducted at baseline. Participants will complete physical and functional assessments, including the SMA EFFORT questionnaire and various motor and endurance tests. The study tracks changes in perceived physical fatigability linked to nusinersen dosing over time. Safety or other treatments are monitored by eligibility criteria, and the study is conducted by Columbia University. Participation begins after screening and involves multiple scheduled assessments to gather comprehensive data on fatigability in daily life tasks.

Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA