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Ketones & Mitochondrial Heteroplasmy

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ClinicalTrials.gov Identifier: NCT01252979
Recruitment Status : Completed
First Posted : December 3, 2010
Last Update Posted : February 6, 2012
Sponsor:
Information provided by (Responsible Party):
Mary Kay Koenig, The University of Texas Health Science Center, Houston

Brief Summary:

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 or disease Intervention/treatment Phase
MELAS Syndrome Mitochondrial Diseases Dietary Supplement: Medium-Chain Triglycerides Early Phase 1

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.


Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 13 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Ketones & Mitochondrial Heteroplasmy
Study Start Date : December 2010
Primary Completion Date : December 2011
Study Completion Date : December 2011


Arm Intervention/treatment
Experimental: Medium Chain Triglyceride Dietary Supplement: Medium-Chain Triglycerides
Subjects will take supplemental MCT oil 3 times a day for 6 months



Primary Outcome Measures :
  1. Heteroplasmy [ Time Frame: 9 months ]
    Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

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
First Posted: December 3, 2010    Key Record Dates
Last Update Posted: February 6, 2012
Last Verified: February 2012

Keywords provided by Mary Kay Koenig, The University of Texas Health Science Center, Houston:
Mitochondrial Disorder
MELAS
Ketones
Medium Chain Triglycerides
MCT oil
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:
Mitochondrial Diseases
MELAS Syndrome
Metabolic 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
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Neuromuscular Diseases
Vascular Diseases
Cardiovascular Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn