NCT05518773Completed
Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy
Source: ClinicalTrials.gov · Last updated 3 Dec 2025
Brief summary (registry, in English)
This study will focus on the pathophysiological underpinnings of reduced exercise capacity and fatigue in ambulatory patients with spinal muscular atrophy (SMA). There has been laboratory evidence to suggest that the molecular mechanisms underlying mitochondrial biogenesis may be vulnerable to survival motor neuron (SMN) protein deficiency. This is an observational, single visit study including 34 ambulatory SMA patients treated with SMN repletion therapies (risdiplam or nusinersen) for at least 6 months at enrollment.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 34 (actual)
- First submitted
- 24 Aug 2022
- Start date
- 15 Dec 2022
- Primary completion date
- 14 Nov 2025
- Lead sponsor
- Columbia University
- Diseases
- Spinal muscular atrophy
- NCT number
- NCT05518773
What you commit to
- Study type: Observational
- Participants enrolled: 34
- From 15 Dec 2022 to the primary completion date, 14 Nov 2025
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry.
Other
- Unable to walk 25 meters independently.
- The presence of any contraindication to exercise according the American College of Sports Medicine (ACSM) criteria.
Who the study is looking for
- 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.
Age in the registry: 8 years to 55 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Columbia University Irving Medical Center Coordinator of this site? Confirm its status | New York | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.