Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

This study has been completed.
Beckman Laser Institute University of California Irvine
Information provided by (Responsible Party):
Beckman Laser Institute and Medical Center, University of California, Irvine Identifier:
First received: November 4, 2008
Last updated: August 5, 2015
Last verified: August 2015

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 Intervention
Mitochondrial Disease
Device: Diffuse Optical Spectroscopy

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Investigation of the Nature and Prevalence of Mitochondria Disease

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Symptoms of Mitochondrial diseases [ Time Frame: Up to 12 weeks ] [ Designated as safety issue: No ]

Enrollment: 18
Study Start Date: October 2006
Study Completion Date: May 2015
Primary Completion Date: May 2015 (Final data collection date for primary outcome measure)
Intervention Details:
    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.

Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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 Identifier: NCT00786539     History of Changes
Other Study ID Numbers: NIH/LAMMP-20022608 
Study First Received: November 4, 2008
Last Updated: August 5, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by University of California, Irvine:

Additional relevant MeSH terms:
Metabolism, Inborn Errors
Mitochondrial Diseases
Genetic Diseases, Inborn
Metabolic Diseases processed this record on May 26, 2016