Ketones & Mitochondrial Heteroplasmy

NCT01252979 | Completed Early Phase 1

• 1 other identifier: HSC-MS-10-0091
• Study Type: interventional
• Target: 13
• Locations: 1 country
• Sites: 1

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.

Conditions

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.

Outcome Measures

Primary Outcomes (1)

• Heteroplasmy

  Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy

  9 months

Study Arms (1)

Medium Chain Triglyceride

EXPERIMENTAL

Dietary Supplement: Medium-Chain Triglycerides

Interventions

Medium-Chain Triglycerides DIETARY_SUPPLEMENT

Subjects will take supplemental MCT oil 3 times a day for 6 months

Medium Chain Triglyceride

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• The University of Texas Health Science Center, Houston: lead

Study Sites (1)

The University of Texas Health Science Center at Houston

Houston, Texas, 77030, United States

Location

MeSH Terms

Conditions

MELAS Syndrome; Mitochondrial Diseases; Ketosis

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Acidosis; Acid-Base Imbalance

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator

Study Record Dates

• First Submitted: December 1, 2010
• First Posted: December 3, 2010
• Study Start: December 1, 2010
• Primary Completion: December 1, 2011
• Study Completion: December 1, 2011
• Last Updated: February 6, 2012

Record last verified: 2012-02

Locations

US (1)