Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Columbia University45 enrolled

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Spinal Muscular Atrophy

Interventions

ObservationalOTHER

Observational

Eligibility

Sex: ALLMin age: 12 Years

Medical Language ↔ Plain English

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)

Locations (1)

Columbia University Irving Medical Center

New York, New York, United States

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: Baseline, 1 week, 1 month

Secondary Outcomes

Revised Upper Limb Module (RULM)

The RULM is used to assess motor function of the shoulder, mid-level elbow, wrist, and hand.

Time frame: Baseline

Hammersmith Functional Motor Scale Expanded (HFMSE)

The HFMSE is a 33-item scale designed to assess gross motor function in sitters and walkers with SMA.

Time frame: Baseline

Six-Minute Walk Test (6MWT)

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.

Time frame: Baseline

Six-Minute Mastication Test (6MMT)

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.

Time frame: Baseline

Endurance Shuttle Box and Block Test (ESSBT)

The ESSBT is a test of upper limb function that has been adapted to assess performance fatigability in SMA.

Time frame: Baseline

Endurance Shuttle Nine-Hole Peg Test (ESNHPT)

The ESNHPT is used to assess more distal, fine motor upper extremity performance fatigability.

Central Contacts

Rafael Rodriguez-Torres, DPT

CONTACT

3472877093 rsr2157@cumc.columbia.edu

Cara Kanner, DPT

CONTACT

516-581-8150 chy2112@cumc.columbia.edu

Data from ClinicalTrials.gov

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