Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
Columbia University
Summary
The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. We aim to characterize perceived physical fatigability (PPF) in a diverse cohort of people with SMA (pwSMA) and evaluate the change of PPF before and after nusinersen dosing.
Description
Fatigue and fatigability are symptoms often experienced by people living with spinal muscular atrophy (pwSMA). Nusinersen is shown to extend survival and improve motor function, but fatigue and fatigability persist. Treated patients report changes in their ability to complete repetitive physical activities but a way for measuring this has not been created. While tests completed in the clinic by individuals with SMA highlight that fatigability is an important part of the SMA experience,we do not fully understand how pwSMA experience fatigability with everyday tasks. Anecdotal reports of pwSMA s…
Eligibility
- Age range
- 12+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and any number of SMN2 copies) 2. Receiving a stable dosing regimen of 12mg nusinersen for at least 6 months Exclusion Criteria: 1. An injury or surgery within the previous 3 months that would impact their ability to perform in-clinic function and/or fatigability assessments 2. Enrolled in an ongoing clinical trial, or extension study, expanded access program, or long-term registry of an investigational or recently approved medication 3. Receiving adjuvant and/or dual therapy (e.g., muscle-targ…
Interventions
- OtherObservational
Observational
Location
- Columbia University Irving Medical CenterNew York, New York