Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

October 19, 2022 updated by: Beckman Laser Institute and Medical Center, University of California, Irvine

Investigation of the Nature and Prevalence of Mitochondria Disease

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.

Study Overview

Status

Completed

Conditions

Mitochondrial Disease

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

United States
- California
  - Irvine, California, United States, 92612
    - Beckman Laser Institute Medical Clinic

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 day and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Genders Eligible for Study

All

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Case-Control
Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Symptoms of Mitochondrial diseases Time Frame: Up to 12 weeks	Up to 12 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of California, Irvine

Collaborators

Beckman Laser Institute University of California Irvine

Investigators

Principal Investigator: Virginia Kimonis, MD, UCIMC Pediatrics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2006

Primary Completion (Actual)

May 1, 2015

Study Completion (Actual)

May 1, 2015

Study Registration Dates

First Submitted

November 4, 2008

First Submitted That Met QC Criteria