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CompletedNCT00786539Updated Oct 20, 2022

Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

An observational study in Mitochondrial Disease, sponsored by University of California, Irvine. Completed at 1 site in United States. Open to participants aged 1 Day and older. Per ClinicalTrials.gov, last updated 2022-10-20.

Sponsored by University of California, Irvine · Observational

Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
18
Ages
1 Day and older
Sex
All
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Study 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.

Read the 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.

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Conditions studied

  • Mitochondrial Disease

Keywords

  • mitochondrial
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In context

Mitochondrial Diseases

182 studies on the registry are indexed under Mitochondrial Diseases; 54 are open to participants now.

This study's enrollment of 18 is below the median of 60 across 72 observational studies indexed under Mitochondrial Diseases.

Browse Mitochondrial Diseases studies →

Lead sponsor

University of California, Irvine is the lead sponsor of 466 studies on the registry; 96 are open to participants now.

Of its 41 completed or terminated interventional studies of FDA-regulated products, 30 (73%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
1 Day and older
Sexes eligible
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

Exclusion Criteria:

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

Observational model
Case-control
Time perspective
Prospective
Enrollment
18 participants (actual)

Interventions

  • DeviceDiffuse Optical Spectroscopy

    mitochondria

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What researchers measure

Primary outcomes

  1. Symptoms of Mitochondrial diseases

    Time frame: Up to 12 weeks

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Study locations

1 site
  • Beckman Laser Institute Medical clinic
    Irvine, California 92612, United States
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Oct 20, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00786539
Lead sponsor
University of California, Irvine
Collaborators
Beckman Laser Institute University of California Irvine
Responsible party
Beckman Laser Institute and Medical Center (Virginia Kimonis, MD, MRCP, University of California, Irvine) — Principal investigator
First posted
Nov 6, 2008
Start date
Oct 2006
Primary completion
May 2015
Completion
May 2015
Last update
Oct 20, 2022

Study contacts

Bruce J Tromberg, PhD
principal investigator · Beckman Laser Institute University of California Irvine
Virginia Kimonis, MD
principal investigator · UCIMC Pediatrics

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Oct 2022. You cannot join it, but the record below documents what was studied.

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