Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

Columbia University

Status: Completed

Conditions: Mitochondrial Myopathy; Spinal Muscular Atrophy Type 3

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT02895789

AAAQ9447

1K01HD084690-01A1 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 42 patients

Sex: All

Ages: 8 to 55 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

42 participants in 3 patient groups

spinal muscular atrophy

Description:

ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with laboratory documentation of homozygous deletion of SMN1 exon 7

mitochondrial myopathy

Description:

ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with genetic confirmation or evidence from muscle biopsy confirming the diagnosis

control

Description:

The healthy control group will be age and gender-matched to the SMA and mitochondrial myopathy groups as best as possible.