Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Columbia University

Status: Enrolling

Conditions: Spinal Muscular Atrophy

Treatments: Other: Observational

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT06955897

AAAV5804

Details and patient eligibility

About

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.

Full 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.

Enrollment: 45 estimated patients

Sex: All

Ages: 12+ years old

Volunteers: No Healthy Volunteers

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)

Trial design

45 participants in 3 patient groups

Walkers

Description:

Participants with SMA who are able to walk without assistance.

Treatment:

Other: Observational

Sitters

Description:

Participants with SMA who are unable to walk without assistance, but are able to sit independently.

Treatment:

Other: Observational

Non-sitters

Description:

Participants with SMA who are unable to sit without assistance.

Treatment:

Other: Observational