- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01252979
Ketones & Mitochondrial Heteroplasmy
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.
Study Overview
Status
Conditions
Intervention / Treatment
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
Enrollment (Actual)
Phase
- Early Phase 1
Contacts and Locations
Study Locations
-
-
Texas
-
Houston, Texas, United States, 77030
- The University of Texas Health Science Center at Houston
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Medium Chain Triglyceride
|
Subjects will take supplemental MCT oil 3 times a day for 6 months
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Heteroplasmy
Time Frame: 9 months
|
Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy
|
9 months
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
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.
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Muscular Diseases
- Neuromuscular Diseases
- Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Cerebral Small Vessel Diseases
- Mitochondrial Encephalomyopathies
- Mitochondrial Myopathies
- Mitochondrial Diseases
- MELAS Syndrome
Other Study ID Numbers
- HSC-MS-10-0091
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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