Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Observational.
- Who it may be relevant to
- Registry conditions: Spinal Muscular Atrophy. Basic parameters: from 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
Overview
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.
Detailed 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 suggest a waning effect in endurance toward the end of their treatment window, however this change has not been measured.The SMA EFFORT is specifically designed for pwSMA and aims to better understand how they feel when completing daily physical activities.
Interventions
- Other Observational
Observational
Primary outcome measures
- SMA EFFORT [Time frame: Baseline, 1 week, 1 month]
Secondary outcome measures (6)
- Revised Upper Limb Module (RULM) [Time frame: Baseline]
- Hammersmith Functional Motor Scale Expanded (HFMSE) [Time frame: Baseline]
- Six-Minute Walk Test (6MWT) [Time frame: Baseline]
- Six-Minute Mastication Test (6MMT) [Time frame: Baseline]
- Endurance Shuttle Box and Block Test (ESSBT) [Time frame: Baseline]
- Endurance Shuttle Nine-Hole Peg Test (ESNHPT) [Time frame: Baseline]
Eligibility criteria
Inclusion criteria
- All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and any number of SMN2 copies)
- Receiving a stable dosing regimen of 12 or 28 mg nusinersen for at least 6 months
Exclusion criteria
- An injury or surgery within the previous 3 months that would impact their ability to perform in-clinic function and/or fatigability assessments
- Enrolled in an ongoing clinical trial, or extension study, expanded access program, or long-term registry of an investigational or recently approved medication
- Receiving adjuvant and/or dual therapy (e.g., muscle-targeted, NMJ, or symptomatic treatments)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Columbia University Irving Medical Center — New York
Identifiers
NCT: NCT06955897 · AAAV5804