Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
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.
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||Investigation of the Nature and Prevalence of Mitochondria Disease|
- Symptoms of Mitochondrial diseases [ Time Frame: Up to 12 weeks ] [ Designated as safety issue: No ]
|Study Start Date:||October 2006|
|Estimated Study Completion Date:||June 2018|
|Estimated Primary Completion Date:||June 2018 (Final data collection date for primary outcome measure)|
Device: Diffuse Optical Spectroscopy
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00786539
|United States, California|
|Beckman Laser Institute Medical clinic|
|Irvine, California, United States, 92612|
|Principal Investigator:||Bruce J Tromberg, PhD||Beckman Laser Institute University of California Irvine|
|Principal Investigator:||Virginia Kimonis, MD||UCIMC Pediatrics|