Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

42 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-11-30

Study Completion Date

2021-01-31

Brief Summary

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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.

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Detailed Description

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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

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Spinal Muscular Atrophy Type 3 Mitochondrial Myopathy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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spinal muscular atrophy

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

No interventions assigned to this group

mitochondrial myopathy

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

No interventions assigned to this group

control

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

No interventions assigned to this group

Eligibility Criteria

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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.

Minimum Eligible Age

8 Years

Maximum Eligible Age

55 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes