NCT01252979

Ketones & Mitochondrial Heteroplasmy

• Status: Completed
• Phase: EARLY_Phase 1
• Study type: Interventional
• Enrollment: 13 (actual)
• Sponsor: The University of Texas Health Science Center, Houston · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• MELAS Syndrome
• Mitochondrial Diseases

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	Medium-Chain Triglycerides	Subjects will take supplemental MCT oil 3 times a day for 6 months

Timeline

• Start date: 2010-12-01
• Primary completion: 2011-12-01
• Completion: 2011-12-01
• First posted: 2010-12-03
• Last updated: 2012-02-06

Locations

1 site across 1 country: United States