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

Launched by COLUMBIA UNIVERSITY · Aug 24, 2022

Keywords

ClinConnect Summary

This clinical trial is looking at why people with Spinal Muscular Atrophy (SMA) often feel very tired and have trouble exercising. Researchers want to understand how the disease affects muscle function and energy levels, especially in patients who have been receiving treatment with specific medications for at least six months. The study will include 34 participants who can walk on their own for at least 25 meters and can use a stationary bike.

To be eligible for this trial, participants must be at least 8 years old, have a confirmed diagnosis of SMA, and have been treated with either risdiplam or nusinersen. During a single visit, participants will be assessed to help researchers learn more about how SMA affects exercise and fatigue. This information could lead to better understanding and potential treatments for managing these challenges in the future.

Gender

ALL

Eligibility 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.