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Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

This study is currently recruiting participants.
Verified November 2017 by Jacqueline Montes, Columbia University
Sponsor:
ClinicalTrials.gov Identifier:
NCT02895789
First Posted: September 12, 2016
Last Update Posted: November 6, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Jacqueline Montes, Columbia University
  Purpose
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.

Condition
Spinal Muscular Atrophy Type 3 Mitochondrial Myopathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)

Resource links provided by NLM:


Further study details as provided by Jacqueline Montes, Columbia University:

Primary Outcome Measures:
  • 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 Outcome Measures:
  • 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).

  • 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.

  • 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.


Estimated Enrollment: 42
Study Start Date: November 2016
Estimated Study Completion Date: May 2020
Estimated Primary Completion Date: July 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
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
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
control
The healthy control group will be age and gender-matched to the SMA and mitochondrial myopathy groups as best as possible.

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

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 55 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
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.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02895789


Contacts
Contact: Ashley Goodwin 212-305-8916 amg2310@columbia.edu
Contact: Jacqueline Montes, PT, EdD 212-305-8916 jm598@columbia.edu

Locations
United States, New York
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Ashley Goodwin       amg2310@columbia.edu   
Principal Investigator: Jacqueline Montes, PT, EdD         
Sponsors and Collaborators
Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
Principal Investigator: Jacqueline Montes, PT, EdD Columbia University
  More Information

Responsible Party: Jacqueline Montes, Assistant Professor of Rehabilitation and Regenerative Medicine , Rehab & Regenerative Med PT, Columbia University
ClinicalTrials.gov Identifier: NCT02895789     History of Changes
Other Study ID Numbers: AAAQ9447
1K01HD084690-01A1 ( U.S. NIH Grant/Contract )
First Submitted: August 31, 2016
First Posted: September 12, 2016
Last Update Posted: November 6, 2017
Last Verified: November 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Jacqueline Montes, Columbia University:
spinal muscular atrophy
oxidative capacity
exercise tolerance
mitochondrial myopathy
SMA
six minute walk test
neuromuscular disease
ambulation
exercise
mitochondria
cycle ergometry
near infrared spectroscopy

Additional relevant MeSH terms:
Spinal Muscular Atrophies of Childhood
Atrophy
Muscular Diseases
Muscular Atrophy
Muscular Atrophy, Spinal
Mitochondrial Myopathies
Pathological Conditions, Anatomical
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Mitochondrial Diseases
Metabolic Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn