Ketones & Mitochondrial Heteroplasmy
Primary Purpose
MELAS Syndrome, Mitochondrial Diseases
Status
Completed
Phase
Early Phase 1
Locations
United States
Study Type
Interventional
Intervention
Medium-Chain Triglycerides
Sponsored by
About this trial
This is an interventional treatment trial for MELAS Syndrome focused on measuring 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.
Eligibility Criteria
Inclusion Criteria:
- 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. 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.
- Subject must not have diabetes mellitus.
Exclusion Criteria:
- 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.
- Subject has a medical condition that could reasonably be exacerbated by ketone supplementation (including diabetes mellitus).
- Subject is unable to give reasonable informed consent/assent.
- Subject is a pregnant or nursing female.
Sites / Locations
- The University of Texas Health Science Center at Houston
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Medium Chain Triglyceride
Arm Description
Outcomes
Primary Outcome Measures
Heteroplasmy
Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy
Secondary Outcome Measures
Full Information
NCT ID
NCT01252979
First Posted
December 1, 2010
Last Updated
February 3, 2012
Sponsor
The University of Texas Health Science Center, Houston
1. Study Identification
Unique Protocol Identification Number
NCT01252979
Brief Title
Ketones & Mitochondrial Heteroplasmy
Official Title
Ketones & Mitochondrial Heteroplasmy
Study Type
Interventional
2. Study Status
Record Verification Date
February 2012
Overall Recruitment Status
Completed
Study Start Date
December 2010 (undefined)
Primary Completion Date
December 2011 (Actual)
Study Completion Date
December 2011 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
The University of Texas Health Science Center, Houston
4. Oversight
Data Monitoring Committee
No
5. Study Description
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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
MELAS Syndrome, Mitochondrial Diseases
Keywords
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.
7. Study Design
Primary Purpose
Treatment
Study Phase
Early Phase 1
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
13 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Medium Chain Triglyceride
Arm Type
Experimental
Intervention Type
Dietary Supplement
Intervention Name(s)
Medium-Chain Triglycerides
Intervention Description
Subjects will take supplemental MCT oil 3 times a day for 6 months
Primary Outcome Measure Information:
Title
Heteroplasmy
Description
Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy
Time Frame
9 months
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
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. 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.
Subject must not have diabetes mellitus.
Exclusion Criteria:
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.
Subject has a medical condition that could reasonably be exacerbated by ketone supplementation (including diabetes mellitus).
Subject is unable to give reasonable informed consent/assent.
Subject is a pregnant or nursing female.
Facility Information:
Facility Name
The University of Texas Health Science Center at Houston
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
12. IPD Sharing Statement
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Ketones & Mitochondrial Heteroplasmy
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