Clinical trial NCT06955897: Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA
Official title: Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinal Muscular Atrophy
Keywords: spinal muscular atrophy
neuromuscular disease
nusinersen
fatigability
exercise
SMA
fatigue
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: Biogen
First posted: 2025-05-02
Enrollment: 45
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 12 years and older, with genetic diagnosis of all types of 5qSMA, treated with nusinersen (12mg) for at least 6 months, will be included.

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.

Eligibility criteria: 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)

Primary outcomes:
measure: SMA EFFORT
timeFrame: Baseline, 1 week, 1 month
Secondary outcomes:
measure: Revised Upper Limb Module (RULM)
timeFrame: Baseline
measure: Hammersmith Functional Motor Scale Expanded (HFMSE)
timeFrame: Baseline
measure: Six-Minute Walk Test (6MWT)
timeFrame: Baseline
measure: Six-Minute Mastication Test (6MMT)
timeFrame: Baseline
measure: Endurance Shuttle Box and Block Test (ESSBT)
timeFrame: Baseline
measure: Endurance Shuttle Nine-Hole Peg Test (ESNHPT)
timeFrame: Baseline
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Irving Medical Center
state: New York
Study officials:
affiliation: Columbia University
name: Jacqueline Montes, Pt, EdD
role: PRINCIPAL_INVESTIGATOR
References: