Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases



Status:Completed
Conditions:Other Indications, Gastrointestinal
Therapuetic Areas:Gastroenterology, Other
Healthy:No
Age Range:Any
Updated:4/21/2016
Start Date:October 2006
End Date:May 2015

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Investigation of the Nature and Prevalence of Mitochondria Disease

The objective of this research protocol is to continue investigation of the nature and
prevalence of mitochondria disease and to aid patients and health care providers in the
understanding of these complex disorders.

This research study brings together many clinical sub-specialists to address the etiology of
these disorders and to develop more effective approaches for their diagnoses and more
reliable prognoses.

The non-invasive device named Diffuse Optical Spectroscopy developed at the Beckman Laser
Institute is to be used to measure various physiological parameters. Since mitochondria
produce most of the energy necessary for cellular function, their efficacy is most important
for systems with a high energy demand like the brain, heart, skeletal muscle, kidney, liver,
and endocrine tissues. As a result, mitochondria diseases usually manifest as complex,
multi-organ disorders, requiring multispecialty investigations.

Inclusion Criteria:

- Male or female all ages group with diagnosis of mitochondrial disorder

Exclusion Criteria:

- Subjects with visual, auditory and/or neurological problems known to result from
toxic or environmental effects
We found this trial at
1
site
Irvine, California 92612
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Irvine, CA
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