Ketones & Mitochondrial Heteroplasmy

Mitochondrial Diseases Clinical Trial

Official title:

Ketones & Mitochondrial Heteroplasmy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01252979
• Other study ID #: HSC-MS-10-0091
• Status: Completed
• Phase: Phase 0
• First received: December 1, 2010
• Last updated: February 3, 2012
• Start date: December 2010
• Est. completion date: December 2011

Study information

• Verified date: February 2012
• Source: The University of Texas Health Science Center, Houston
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Interventional

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 13
• Est. completion date: December 2011
• Est. primary completion date: December 2011
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Subject is informed and given ample opportunity to consider his/her participation and has given his/her written consent.

2. Subject is willing and able to comply with all trial requirements.

3. Subject harbors the 3243 A>G mtDNA mutation at a level detectable in blood.

4. 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.

5. Subject must not have diabetes mellitus.

Exclusion Criteria:

1. 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.

2. Subject has a medical condition that could reasonably be exacerbated by ketone supplementation (including diabetes mellitus).

3. Subject is unable to give reasonable informed consent/assent.

4. Subject is a pregnant or nursing female.

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

Intervention

Dietary Supplement:
• Medium-Chain Triglycerides
Subjects will take supplemental MCT oil 3 times a day for 6 months

Locations

Country	Name	City	State
United States	The University of Texas Health Science Center at Houston	Houston	Texas

Sponsors (1)

Lead Sponsor	Collaborator
The University of Texas Health Science Center, Houston

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Heteroplasmy	Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy	9 months	No