RECRUITING

Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Conditions

Spinal Muscular Atrophy neuromuscular disease nusinersen fatigability exercise SMA fatigue

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2025-04-24

Study Completion:2027-02-26

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06955897

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.

Ages Eligible for Study:12 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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)

Inclusion Criteria

Exclusion 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)

Contacts and Locations

Study Contact

Michael S Lutzker

CONTACT

9257055133

ml5121@cumc.columbia.edu

Rafael S Rodriguez Torres, DPT

CONTACT

3472877093

rsr2157@cumc.columbia.edu

Principal Investigator

Jacqueline Montes, Pt, EdD

PRINCIPAL_INVESTIGATOR

Columbia University

Study Locations (Sites)

Columbia University Irving Medical Center

New York, New York, 10032

United States

Collaborators and Investigators

Sponsor: Columbia University

Jacqueline Montes, Pt, EdD, PRINCIPAL_INVESTIGATOR, Columbia University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-04-24

Study Completion Date2027-02-26

Study Record Updates

Study Start Date2025-04-24

Study Completion Date2027-02-26

Terms related to this study

Keywords Provided by Researchers

spinal muscular atrophy
neuromuscular disease
nusinersen
fatigability
exercise
SMA
fatigue

Additional Relevant MeSH Terms

Spinal Muscular Atrophy