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Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00786539
Recruitment Status : Completed
First Posted : November 6, 2008
Last Update Posted : February 10, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:

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.

Condition or disease Intervention/treatment
Mitochondrial Disease Device: Diffuse Optical Spectroscopy

Detailed Description:
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.

Study Design

Study Type : Observational
Actual Enrollment : 18 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Investigation of the Nature and Prevalence of Mitochondria Disease
Study Start Date : October 2006
Primary Completion Date : May 2015
Study Completion Date : May 2015

Groups and Cohorts

Intervention Details:
    Device: Diffuse Optical Spectroscopy

Outcome Measures

Primary Outcome Measures :
  1. Symptoms of Mitochondrial diseases [ Time Frame: Up to 12 weeks ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Study population with mitochondrial disorder and/or their relatives will be referred to MITOMED by Primary Care Physicians or by Clinical Specialists.

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
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00786539

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
Principal Investigator: Bruce J Tromberg, PhD Beckman Laser Institute University of California Irvine
Principal Investigator: Virginia Kimonis, MD UCIMC Pediatrics
More Information

Responsible Party: Beckman Laser Institute and Medical Center, Virginia Kimonis, MD, MRCP, University of California, Irvine
ClinicalTrials.gov Identifier: NCT00786539     History of Changes
Other Study ID Numbers: NIH/LAMMP-20022608
First Posted: November 6, 2008    Key Record Dates
Last Update Posted: February 10, 2017
Last Verified: February 2017

Keywords provided by Beckman Laser Institute and Medical Center, University of California, Irvine:

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases