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NCT Number: NCT02895789

Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

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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Key information

Conditions

Spinal Muscular Atrophy Type 3 Behavior Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Mitochondrial Myopathies Mitochondrial Myopathy Motor Activity Motor Neuron Disease Muscular Atrophy, Spinal Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Spinal Cord Diseases Spinal Muscular Atrophies of Childhood

Age range

8 year–55 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Columbia University Medical Center

New York, 10032, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Patients with and without Spinraza treatment are eligible.

Treatment and study plan

Primary outcomes

  1. Change in NIRS derived index of muscle oxygen extraction

    Time frame: baseline, 6 months

    Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.

Secondary outcomes

  1. Change in Peak oxygen uptake (V02 max)

    Time frame: 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).

  2. Change in Distance walked during the Six Minute Walk Test (6MWT)

    Time frame: 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.

  3. Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Columbia University

Other

Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • Muscular Dystrophy Association

Registry information

Official study title

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

Important dates

Study start
2016
Primary completion
2020
Study completion
2021
First posted
Sep 12, 2016
Registry last updated
Mar 8, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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