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Trial record 29 of 681 for:    Recruiting, Not yet recruiting, Available Studies | "Muscular Diseases"

Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

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ClinicalTrials.gov Identifier: NCT02895789
Recruitment Status : Recruiting
First Posted : September 12, 2016
Last Update Posted : May 1, 2018
Sponsor:
Collaborator:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Jacqueline Montes, Columbia University

August 31, 2016
September 12, 2016
May 1, 2018
November 2016
July 2019   (Final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT02895789 on ClinicalTrials.gov Archive Site
  • 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.
Same as current
Not Provided
Not Provided
 
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (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.
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.
Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Not Provided
Non-Probability Sample
The study sample will include 14 ambulatory SMA patients, 14 ambulatory mitochondrial myopathy patients, and 14 healthy controls.
  • Spinal Muscular Atrophy Type 3
  • Mitochondrial Myopathy
Not Provided
  • 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.
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
42
Same as current
May 2020
July 2019   (Final data collection date for primary outcome measure)

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.

Sexes Eligible for Study: All
8 Years to 55 Years   (Child, Adult)
Yes
Contact: Ashley Goodwin 212-305-8916 amg2310@columbia.edu
Contact: Jacqueline Montes, PT, EdD 212-305-8916 jm598@columbia.edu
United States
 
 
NCT02895789
AAAQ9447
1K01HD084690-01A1 ( U.S. NIH Grant/Contract )
No
Not Provided
Plan to Share IPD: Undecided
Jacqueline Montes, Columbia University
Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Jacqueline Montes, PT, EdD Columbia University
Columbia University
April 2018