Understanding exercise intolerance and fatigue in spinal muscular atrophy
Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy
This study is trying to understand why people with spinal muscular atrophy feel tired and have trouble exercising, by looking at how two different treatments affect their muscles and energy levels.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 34 (estimated) |
| Ages | 8 Years to 55 Years |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT05518773 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the underlying mechanisms of reduced exercise capacity and persistent fatigue in ambulatory patients with spinal muscular atrophy (SMA) who have been treated with SMN repletion therapies for at least six months. It aims to explore the relationship between muscle mitochondrial function and fatigue in the context of SMN deficiency. By comparing the effects of two different treatment modalities, risdiplam and nusinersen, the study seeks to identify potential strategies to improve muscle function and overall quality of life for SMA patients.
Who should consider this trial
Good fit: Ideal candidates include ambulatory children and adults with genetically confirmed SMA who have been on SMN repletion therapy for at least six months.
Not a fit: Patients who are unable to walk independently or have contraindications to exercise may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved treatment strategies that enhance exercise capacity and reduce fatigue in patients with spinal muscular atrophy.
How similar studies have performed: While this study explores novel mechanisms in SMA treatment, similar approaches have shown promise in understanding and addressing exercise intolerance in neuromuscular diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Genetic confirmation of SMA with laboratory documentation of homozygous deletion of survival motor neuron (SMN1) exon 7; * At least 8 years of age at time of signing Informed Consent Form (or assent) * Children or adults currently receiving treatment, for at least 6 months, with SMN repletion therapy, either with (1) risdiplam, or (2) nusinersen * Able to walk independently at least 25 meters * Able to tread a stationary cycle ergometer. Exclusion Criteria: * Unable to walk 25 meters independently. * Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry. * The presence of any contraindication to exercise according the American College of Sports Medicine (ACSM) criteria.
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: Jacqueline Montes, PT, EdD
- Email: jm598@cumc.columbia.edu
- Phone: 212-305-8916
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.