Ketones & Mitochondrial Heteroplasmy

Mitochondrial Diseases Clinical Trial

Official title: Ketones & Mitochondrial Heteroplasmy

Status Completed

Clinical Trial 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.

Clinical Trial 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 Design

Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• MELAS Syndrome
• Mitochondrial Diseases

• NCT number: NCT01252979
• Study type: Interventional
• Source: The University of Texas Health Science Center, Houston
• Status: Completed
• Phase: Phase 0
• Start date: December 2010
• Completion date: December 2011