Clinical Trial: Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief 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 Summary: 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.
Sponsor: Columbia University

Current Primary Outcome: Change in NIRS derived index of muscle oxygen extraction [ Time Frame: baseline, 6 months ]

Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Change in Peak oxygen uptake (V02 max) [ Time Frame: baseline, 6 months ]
    Participants will undergo an exercise stress test performed by a clinical exercise physiologist using an electronically-braked recumbent cycle ergometer to determine peak oxygen uptake (VO2 max).
  • Change in Distance walked during the Six Minute Walk Test (6MWT) [ Time Frame: baseline, 6 months ]
    6MWT is an objective evaluation of functional exercise capacity, measures the maximum distance a person can walk in six minutes over a 25-meter linear course.
  • Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA) [ Time Frame: baseline, 6 months ]
    Dual-Energy X-ray Absorptiometry (DEXA) is a method of estimating bone and lean body mass by comparing the absorption of two distinct energy level beams at 46.8 keV and 80 keV, which are effective at differentiating soft tissue and bone. A standard DEXA scan will be performed in supine.


Original Secondary Outcome: Same as current

Information By: Columbia University

Dates:
Date Received: August 31, 2016
Date Started: November 2016
Date Completion: May 2020
Last Updated: December 16, 2016
Last Verified: December 2016