NCT02895789

Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 42 (actual)
• Sponsor: Columbia University · Academic / Other
• Sex: All
• Age: 8 Years – 55 Years
• Healthy volunteers: Accepted

Summary

This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.

Detailed description

Spinal Muscular Atrophy (SMA) is a progressive, recessively-inherited neuromuscular disease characterized by weakness and muscle atrophy due to the loss of spinal cord motor neurons. The results from this study would provide preliminary data, using non-invasive methods, on oxidative capacity in ambulatory SMA patients and disease controls to aid in the design of exercise intervention studies. Furthermore, this information would link previous laboratory and preclinical findings of mitochondrial depletion in SMA to the clinical condition and provide important information for future studies designed to improve oxidative capacity and fitness in SMA patients.

Conditions

• Spinal Muscular Atrophy Type 3
• Mitochondrial Myopathy

Timeline

• Start date: 2016-11-01
• Primary completion: 2020-10-01
• Completion: 2021-01-01
• First posted: 2016-09-12
• Last updated: 2022-03-08

Locations

1 site across 1 country: United States