Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA
1 other identifier
observational
45
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Apr 2025
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
April 24, 2025
CompletedFirst Submitted
Initial submission to the registry
April 25, 2025
CompletedFirst Posted
Study publicly available on registry
May 2, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 7, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
February 26, 2027
February 5, 2026
April 1, 2025
1.6 years
April 25, 2025
February 3, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
SMA EFFORT
The SMA EFFORT is a perceived physical fatigability patient-reported outcome measure (PROM) that provides a percent (PPF%) total score to each participant based on their participation over the past 30 days.
Baseline, 1 week, 1 month
Secondary Outcomes (6)
Revised Upper Limb Module (RULM)
Baseline
Hammersmith Functional Motor Scale Expanded (HFMSE)
Baseline
Six-Minute Walk Test (6MWT)
Baseline
Six-Minute Mastication Test (6MMT)
Baseline
Endurance Shuttle Box and Block Test (ESSBT)
Baseline
- +1 more secondary outcomes
Study Arms (3)
Walkers
Participants with SMA who are able to walk without assistance.
Sitters
Participants with SMA who are unable to walk without assistance, but are able to sit independently.
Non-sitters
Participants with SMA who are unable to sit without assistance.
Interventions
Eligibility Criteria
12 years and older, with genetic diagnosis of all types of 5qSMA, treated with nusinersen (12mg) for at least 6 months, will be included.
You may qualify if:
- 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 12mg nusinersen for at least 6 months
You may not qualify if:
- 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)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Columbia Universitylead
- Biogencollaborator
Study Sites (1)
Columbia University Irving Medical Center
New York, New York, 10032, United States
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Jacqueline Montes, Pt, EdD
Columbia University
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor of Rehabilitation and Regenerative Medicine
Study Record Dates
First Submitted
April 25, 2025
First Posted
May 2, 2025
Study Start
April 24, 2025
Primary Completion (Estimated)
December 7, 2026
Study Completion (Estimated)
February 26, 2027
Last Updated
February 5, 2026
Record last verified: 2025-04