Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
|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.|
|ClinicalTrials.gov Identifier: NCT02895789|
Recruitment Status : Recruiting
First Posted : September 12, 2016
Last Update Posted : November 6, 2017
|Condition or disease|
|Spinal Muscular Atrophy Type 3 Mitochondrial Myopathy|
|Study Type :||Observational|
|Estimated Enrollment :||42 participants|
|Official Title:||Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)|
|Study Start Date :||November 2016|
|Estimated Primary Completion Date :||July 2019|
|Estimated Study Completion Date :||May 2020|
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
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
The healthy control group will be age and gender-matched to the SMA and mitochondrial myopathy groups as best as possible.
- 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.
- 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.
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
|Contact: Ashley Goodwinemail@example.com|
|Contact: Jacqueline Montes, PT, EdDfirstname.lastname@example.org|
|United States, New York|
|Columbia University Medical Center||Recruiting|
|New York, New York, United States, 10032|
|Contact: Ashley Goodwin email@example.com|
|Principal Investigator: Jacqueline Montes, PT, EdD|
|Principal Investigator:||Jacqueline Montes, PT, EdD||Columbia University|