Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases

NCT ID: NCT00786539

Last Updated: 2022-10-20

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 18 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2006-10-31
• Study Completion Date: 2015-05-31

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.

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.

Conditions

Mitochondrial Disease

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Interventions

Diffuse Optical Spectroscopy

mitochondria

Intervention Type: DEVICE

Eligibility Criteria

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

• Minimum Eligible Age: 1 Day
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Beckman Laser Institute University of California Irvine

OTHER

Sponsor Role: collaborator

University of California, Irvine

OTHER

Sponsor Role: lead

Responsible Party

Beckman Laser Institute and Medical Center

Virginia Kimonis, MD, MRCP

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Bruce J Tromberg, PhD

Role: PRINCIPAL_INVESTIGATOR

Beckman Laser Institute University of California Irvine

Virginia Kimonis, MD

Role: PRINCIPAL_INVESTIGATOR

UCIMC Pediatrics

Locations

Beckman Laser Institute Medical clinic

Irvine, California, United States

Countries

United States

Other Identifiers

20022608

Identifier Type: -

Identifier Source: org_study_id