Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Recruiting

• Conditions: Spinal Muscular Atrophy

• Registration Number: NCT06955897
• Lead Sponsor: Columbia University

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.

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.

Study Timeline

• Status Verified: 2025-04
• Study Start: 2025-04-24
• Study First Submitted: 2025-04-25
• Study First Submitted QC: 2025-04-25
• Last Update Submitted: 2025-04-25
• Study First Posted: 2025-05-02
• Last Update Posted: 2025-05-02
• Primary Completion: 2026-12-07
• Study Completion: 2027-02-26

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 45

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-targeted, NMJ, or symptomatic treatments)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
SMA EFFORT	Baseline, 1 week, 1 month	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.

Secondary Outcome Measures

Name	Time	Method
Endurance Shuttle Nine-Hole Peg Test (ESNHPT)	Baseline	The ESNHPT is used to assess more distal, fine motor upper extremity performance fatigability.
Revised Upper Limb Module (RULM)	Baseline	The RULM is used to assess motor function of the shoulder, mid-level elbow, wrist, and hand.
Hammersmith Functional Motor Scale Expanded (HFMSE)	Baseline	The HFMSE is a 33-item scale designed to assess gross motor function in sitters and walkers with SMA.
Six-Minute Walk Test (6MWT)	Baseline	The 6MWT is an objective evaluation of functional exercise capacity which measures the maximum distance a person can walk in six minutes over a 25-meter linear course.
Six-Minute Mastication Test (6MMT)	Baseline	The 6MMT is a measure of chewing endurance in which the individual is asked to continuously chew on a chewing tube for a period of six minutes.
Endurance Shuttle Box and Block Test (ESSBT)	Baseline	The ESSBT is a test of upper limb function that has been adapted to assess performance fatigability in SMA.

Trial Locations

Locations (1)

Columbia University Irving Medical Center; 🇺🇸 New York, New York, United States