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.

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Key information

Conditions

Mitochondrial Disease Metabolic Diseases Mitochondrial Diseases Nutritional and Metabolic Diseases

Age range

1 day and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Beckman Laser Institute Medical clinic

Irvine, California, 92612, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Diffuse Optical Spectroscopy

Device

mitochondria

Primary outcomes

Symptoms of Mitochondrial diseases

Time frame: Up to 12 weeks

Sponsors and collaborators

Lead sponsor

University of California, Irvine

Other

Collaborators

Beckman Laser Institute University of California Irvine

Registry information

Official study title

Investigation of the Nature and Prevalence of Mitochondria Disease

Important dates

Study start: 2006
Primary completion: 2015
Study completion: 2015
First posted: Nov 6, 2008
Registry last updated: Oct 20, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed