Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

Spinal Muscular Atrophy Type 3 Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02895789
• Other study ID #: AAAQ9447
• Secondary ID: 1K01HD084690-01A
• Status: Completed
• Start date: November 2016
• Est. completion date: January 2021

Study information

• Verified date: March 2022
• Source: Columbia University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 42
• Est. completion date: January 2021
• Est. primary completion date: October 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 8 Years to 55 Years

Eligibility

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.

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.

Related Conditions & MeSH terms

• Atrophy
• Mitochondrial Myopathies
• Mitochondrial Myopathy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Muscular Diseases
• Spinal Muscular Atrophy Type 3

Locations

Country	Name	City	State
United States	Columbia University Medical Center	New York	New York

Sponsors (3)

Lead Sponsor	Collaborator
Columbia University	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Muscular Dystrophy Association

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in NIRS derived index of muscle oxygen extraction	Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.	baseline, 6 months
Secondary	Change in Peak oxygen uptake (V02 max)	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).	baseline, 6 months
Secondary	Change in Distance walked during the Six Minute Walk Test (6MWT)	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.	baseline, 6 months
Secondary	Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)	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.	baseline, 6 months