Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA

Launched by COLUMBIA UNIVERSITY · Apr 25, 2025

Keywords

ClinConnect Summary

This clinical trial is looking at how people with Spinal Muscular Atrophy (SMA) feel about their physical fatigue after receiving a treatment called nusinersen. The researchers want to understand how tired participants feel during different activities and whether this changes after they have been treated with nusinersen for some time. To do this, they will use a special questionnaire designed specifically for SMA patients.

If you or a loved one has SMA and has been receiving nusinersen treatment for at least six months, you may be eligible to participate in this study. Participants should not have had any recent injuries or surgeries that could affect their ability to take part in the assessments. Throughout the trial, you can expect to fill out surveys about your level of fatigue and possibly participate in other assessments to help researchers gather useful information. This study will help improve our understanding of how nusinersen affects fatigue in people with SMA.

Gender

ALL

Eligibility 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)