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Ketones & Mitochondrial Heteroplasmy

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Mary Kay Koenig, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier:
NCT01252979
First received: December 1, 2010
Last updated: February 3, 2012
Last verified: February 2012
History of Changes
  Purpose

The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G). Subjects will be given supplemental medium chain triglycerides (MCTs) for a period of 6 months. mtDNA heteroplasmy will be measured 3 months prior to treatment, at treatment initiation, and 6 months after initiation.

The primary objective of the current study is to determine if there is a shift in heteroplasmy in patients harboring the 3243 A>G mtDNA mutation to a more favorable (higher wild-type) profile while in a state of ketosis.


Condition Intervention Phase
MELAS Syndrome
Mitochondrial Diseases
 Dietary Supplement: Medium-Chain Triglycerides
 Phase 0

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Ketones & Mitochondrial Heteroplasmy

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by The University of Texas Health Science Center, Houston:

Primary Outcome Measures:
  • Heteroplasmy [ Time Frame: 9 months ] [ Designated as safety issue: No ]
    Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy


Enrollment: 13
Study Start Date: December 2010
Study Completion Date: December 2011
Primary Completion Date: December 2011 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Medium Chain Triglyceride Dietary Supplement: Medium-Chain Triglycerides
Subjects will take supplemental MCT oil 3 times a day for 6 months

Detailed Description:

The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known pathogenic mutation in their mtDNA at position 3243 (A>G). Subjects will be induced in to ketosis by administration of supplemental medium chain triglycerides (MCTs) for a period of 6 months. mtDNA heteroplasmy will be assessed 3 months prior to treatment, at treatment initiation, and 6 months after initiation.

The primary objective of the current study is to determine if there is a shift in heteroplasmy in patients harboring the 3243 A>G mtDNA mutation to a more favorable (higher wild-type) genotypic profile while in a state of ketosis.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  1. Subject is informed and given ample opportunity to consider his/her participation and has given his/her written consent.
  2. Subject is willing and able to comply with all trial requirements.
  3. Subject harbors the 3243 A>G mtDNA mutation at a level detectable in blood.
  4. Female subjects of child-bearing potential must not be pregnant. Female subjects of child-bearing potential (not surgically sterile or 2 years post-menopausal) must also agree to use appropriate contraceptive methods (abstinence, oral, injectable, implantable, or barrier) for the duration of the trial.
  5. Subject must not have diabetes mellitus.

Exclusion Criteria:

  1. Subject is currently participating or has participated within the last 2 months in any clinical trial involving treatment of mitochondrial disorders with MCT supplementation or induction of ketosis.
  2. Subject has a medical condition that could reasonably be exacerbated by ketone supplementation (including diabetes mellitus).
  3. Subject is unable to give reasonable informed consent/assent.
  4. Subject is a pregnant or nursing female.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01252979

Locations
United States, Texas
The University of Texas Health Science Center at Houston
Houston, Texas, United States, 77030
Sponsors and Collaborators
The University of Texas Health Science Center, Houston
  More Information

No publications provided

Responsible Party: Mary Kay Koenig, Principle Investigator, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier: NCT01252979     History of Changes
Other Study ID Numbers: HSC-MS-10-0091
Study First Received: December 1, 2010
Last Updated: February 3, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by The University of Texas Health Science Center, Houston:
MELAS
Ketones
Medium Chain Triglycerides
MCT oil
Mitochondrial Disorder
Heteroplasmy
 3243AG
Subject is informed and given ample opportunity to consider his/her participation and has given his/her written consent.
Subject is willing and able to comply with all trial requirements.
Subject harbors the 3243 A>G mtDNA mutation at a level detectable in blood.
Female subjects of child-bearing potential must not be pregnant.
Subjects must not have Diabetes Mellitus.

Additional relevant MeSH terms:
MELAS Syndrome
Mitochondrial Diseases
Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Muscular Diseases
Musculoskeletal Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
 Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neuromuscular Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on June 17, 2013