Mitochondrial Inborn Errors of Metabolism and ANT Defects in Mitochondrial Diseases

This study is enrolling participants by invitation only.

First Received: November 4, 2008 Last Updated: March 13, 2009 History of Changes

Sponsors and Collaborators:	University of California, Irvine Beckman Laser Institute University of California Irvine
Information provided by:	University of California, Irvine
ClinicalTrials.gov Identifier:	NCT00786539

Purpose

The objective of this research protocol is to continue investigation of the nature and prevalence of mitochondrial 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.

Condition
Mitochondrial Disease

Genetics Home Reference related topics: mitochondrial neurogastrointestinal encephalopathy disease

U.S. FDA Resources

Study Type:	Observational
Study Design:	Cohort, Prospective
Official Title:	Investigation of the Nature and Prevalence of Mitochondrial Disease

Further study details as provided by University of California, Irvine:

Primary Outcome Measures:

to develop more effective approaches for their diagnoses and more reliable prognoses [ Time Frame: 4 weeks ] [ Designated as safety issue: No ]

Biospecimen Retention: None Retained

Biospecimen Description:

Estimated Enrollment:	50
Study Start Date:	October 2006
Estimated Study Completion Date:	October 2012
Estimated Primary Completion Date:	October 2012 (Final data collection date for primary outcome measure)

Groups/Cohorts
mitochondrial mitochondrial

Detailed Description:

The non-invasive device call Diffuse Optical Spectroscopy debelope at Beckman Laser Institute 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, mitochondrial diseases usually manifest as complex, multi organ disorders, requiring multi specialty investigations.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

primary care clinic, community sample

Criteria

Inclusion Criteria:

Subjects with mitochondrial disorder

Exclusion Criteria:

Subjects with visual, auditory and/or neurological problems known to result from toxic or environmental effects

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00786539

Locations

United States, California
Beckman Laser Institute Medical clinic
Irvine, California, United States, 92612

Sponsors and Collaborators

University of California, Irvine

Beckman Laser Institute University of California Irvine

Investigators

Principal Investigator:	Bruce J Tromberg, PhD	Beckman Laser Institute University of California Irvine
Principal Investigator:	Douglas c Wallace, PhD	UCI, Molecular and Mitochondrial medicine and Genetics

More Information

No publications provided

Responsible Party:	Beckman Laser Institute ( Bruce J. Tromberg, Ph. D. )
Study ID Numbers:	LAMMP-DOS-01192-29, VOLIGHTEN V-45082
Study First Received:	November 4, 2008
Last Updated:	March 13, 2009
ClinicalTrials.gov Identifier:	NCT00786539 History of Changes
Health Authority:	United States: Institutional Review Board

Keywords provided by University of California, Irvine:

mitochondrial

Study placed in the following topic categories:

Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Disorder

Additional relevant MeSH terms:

Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases

ClinicalTrials.gov processed this record on May 07, 2009