Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Description

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.

Conditions

Spinal Muscular Atrophy

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Study Overview

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Study Details

Study 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.

Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT

Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Condition
Spinal Muscular Atrophy
Intervention / Treatment

-

Contacts and Locations

New York

Columbia University Irving Medical Center, New York, New York, United States, 10032

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • 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)

Ages Eligible for Study

12 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Columbia University,

Jacqueline Montes, Pt, EdD, PRINCIPAL_INVESTIGATOR, Columbia University

Study Record Dates

2027-02-26