Understanding fatigue in patients with spinal muscular atrophy treated with nusinersen
Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
Columbia University · NCT06955897
This study is trying to see how nusinersen treatment affects fatigue in people with spinal muscular atrophy and how that fatigue impacts their daily activities.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | Columbia University (other) |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT06955897 on ClinicalTrials.gov |
What this trial studies
This project investigates perceived physical fatigability in individuals with spinal muscular atrophy (SMA) who are receiving nusinersen treatment. It utilizes the SMA EFFORT, a patient-reported outcome measure specifically designed for SMA, to assess how fatigue affects daily activities. The study aims to characterize changes in perceived physical fatigability before and after nusinersen dosing, providing insights into the endurance of patients during routine tasks. By focusing on a diverse cohort of patients, the research seeks to fill the gap in understanding the impact of fatigue on their quality of life.
Who should consider this trial
Good fit: Ideal candidates are individuals with spinal muscular atrophy who have been on a stable dosing regimen of nusinersen for at least six months.
Not a fit: Patients who have had recent injuries or surgeries affecting their physical abilities, or those receiving other investigational treatments, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved management strategies for fatigue in SMA patients, enhancing their overall quality of life.
How similar studies have performed: While there is ongoing research into fatigue in SMA, this specific approach using the SMA EFFORT is novel and has not been extensively tested in previous studies.
Eligibility criteria
Show full inclusion / exclusion 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)
Where this trial is running
New York, New York
- Columbia University Irving Medical Center — New York, New York, United States (RECRUITING)
Study contacts
- Principal investigator: Jacqueline Montes, Pt, EdD — Columbia University
- Study coordinator: Rafael Rodriguez-Torres, DPT
- Email: rsr2157@cumc.columbia.edu
- Phone: 3472877093
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Spinal Muscular Atrophy, spinal muscular atrophy, neuromuscular disease, nusinersen, fatigability, exercise, SMA, fatigue