An observational study in Spinal Muscular Atrophy Type 3 and Mitochondrial Myopathy, sponsored by Columbia University. Completed at 1 site in United States. Open to participants aged 8 Years to 55 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-03-08.
Sponsored by Columbia University · Observational
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.
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This study's enrollment of 42 is below the median of 60 across 111 observational studies indexed under Muscular Diseases.
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The study sample will include 14 ambulatory SMA patients, 14 ambulatory mitochondrial myopathy patients, and 14 healthy controls.
One of the following categories:
Exclusion Criteria:
Patients with and without Spinraza treatment are eligible.
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
Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.
Time frame: baseline, 6 months
Change in Peak oxygen uptake (V02 max)
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).
Time frame: baseline, 6 months
Change in Distance walked during the Six Minute Walk Test (6MWT)
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.
Time frame: baseline, 6 months
Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)
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.
Time frame: baseline, 6 months
Plan to share: Undecided
No publications or documents are linked to this record.
This study is completed, as verified in Mar 2022. You cannot join it, but the record below documents what was studied.
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