Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy

Study Identifier:
AAAT5811
ClinicalTrials.gov Identifier:
NCT05518773
EudraCT Identifier:
N/A
EU CT Number:
N/A
Sponsor:
Columbia University
Recruiting

Study Details

Medical Condition
  • All Spinal Muscular Atrophies
Study Drug
    Date
    Dec 2022 - Dec 2025
    Patient Requirements
    Sex: Female & Male
    Age: 8 - 55 Years
    Requirements Information
    Inclusion and Exclusion Criteria
    Inclusion 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.

    Protocol Summary

    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.

    Trial Locations

    Location
    Status
    Location
    Columbia University Irving Medical Center
    New York, New York, United States, 10032
    Status
    Recruiting

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