Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

Completed

• Conditions: Spinal Muscular Atrophy Type 3; Mitochondrial Myopathy

• Registration Number: NCT02895789
• Lead Sponsor: Columbia University

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 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.

Study Timeline

• Study First Submitted: 2016-08-31
• Study First Submitted QC: 2016-09-06
• Study First Posted: 2016-09-12
• Study Start: 2016-11
• Primary Completion: 2020-10
• Study Completion: 2021-01
• Status Verified: 2022-03
• Last Update Submitted: 2022-03-07
• Last Update Posted: 2022-03-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 42

Inclusion Criteria

1. One of the following categories:

   • Genetic confirmation of SMA with laboratory documentation of homozygous deletion of SMN1 exon 7;
   • Genetic confirmation of mitochondrial myopathy or evidence from muscle biopsy confirming the diagnosis; or
   • Healthy individuals.

2. Able to walk independently at least 25 meters, and able to tread a stationary cycle ergometer.

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Exclusion Criteria

1. Unable to walk 25 meters independently.
2. Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry.
3. The presence of any contraindication to exercise according the ACSM criteria.

Patients with and without Spinraza treatment are eligible.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in NIRS derived index of muscle oxygen extraction	baseline, 6 months	Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.

Secondary Outcome Measures

Name	Time	Method
Change in Peak oxygen uptake (V02 max)	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)	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)	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.

Trial Locations

Locations (1)

Columbia University Medical Center; 🇺🇸 New York, New York, United States