Clinical trial NCT02895789: Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
Official title: Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Spinal Muscular Atrophy Type 3
Mitochondrial Myopathy
Keywords: spinal muscular atrophy
oxidative capacity
exercise tolerance
mitochondrial myopathy
SMA
six minute walk test
neuromuscular disease
ambulation
exercise
mitochondria
cycle ergometry
near infrared spectroscopy
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
name: Muscular Dystrophy Association
First posted: 2016-09-12
Enrollment: 42
Sex: ALL
Minimum age (years): 8
Maximum age (years): 55
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study sample will include 14 ambulatory SMA patients, 14 ambulatory mitochondrial myopathy patients, and 14 healthy controls.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change in NIRS derived index of muscle oxygen extraction
timeFrame: baseline, 6 months
Secondary outcomes:
measure: Change in Peak oxygen uptake (V02 max)
timeFrame: baseline, 6 months
measure: Change in Distance walked during the Six Minute Walk Test (6MWT)
timeFrame: baseline, 6 months
measure: Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)
timeFrame: baseline, 6 months
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
Study officials:
affiliation: Columbia University
name: Jacqueline Montes, PT, EdD
role: PRINCIPAL_INVESTIGATOR
References: