Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Last updated: May 12, 2026
Sponsor: Columbia University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Dystonias

Muscular Dystrophy

Pain (Pediatric)

Treatment

Observational

Clinical Study ID

NCT06955897
AAAV5804
  • Ages > 12
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  1. All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and anynumber of SMN2 copies)

  2. Receiving a stable dosing regimen of 12 or 28 mg nusinersen for at least 6 months

Exclusion

Exclusion Criteria:

  1. An injury or surgery within the previous 3 months that would impact their ability toperform 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 symptomatictreatments)

Study Design

Total Participants: 45
Treatment Group(s): 1
Primary Treatment: Observational
Phase:
Study Start date:
April 24, 2025
Estimated Completion Date:
February 26, 2027

Study 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.

Connect with a study center

  • Columbia University Irving Medical Center

    New York, New York 10032
    United States

    Active - Recruiting

  • Columbia University Irving Medical Center

    New York 5128581, New York 5128638 10032
    United States

    Site Not Available

Map preview placeholder

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.