## Protocol Section
### Identification Module
**NCT ID:** NCT01252979

**Brief Title:** Ketones & Mitochondrial Heteroplasmy

**Official Title:** Ketones & Mitochondrial Heteroplasmy

#### Organization Study ID Info
**ID:** HSC-MS-10-0091
#### Organization
**Class:** OTHER
**Full Name:** The University of Texas Health Science Center, Houston
### Status Module
#### Completion Date
**Date:** 2011-12

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2012-02-06

**Type:** ESTIMATED

**Last Update Submit Date:** 2012-02-03

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2011-12

**Type:** ACTUAL

#### Start Date
**Date:** 2010-12

**Status Verified Date:** 2012-02

#### Study First Post Date
**Date:** 2010-12-03
**Type:** ESTIMATED
**Study First Submit Date:** 2010-12-01
**Study First Submit QC Date:** 2010-12-01
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** The University of Texas Health Science Center, Houston

#### Responsible Party

**Investigator Affiliation:** The University of Texas Health Science Center, Houston

**Investigator Full Name:** Mary Kay Koenig

**Investigator Title:** Principle Investigator

**Type:** PRINCIPAL_INVESTIGATOR

### Oversight Module

**Oversight Has DMC:** False

### Description Module

**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.

**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 Module

**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.

### Design Module

#### Design Info

**Allocation:** NA

**Intervention Model:** SINGLE_GROUP

##### Masking Info

**Masking:** NONE

**Primary Purpose:** TREATMENT

#### Enrollment Info

**Count:** 13

**Type:** ACTUAL

**Phases:**

- EARLY_PHASE1

**Study Type:** INTERVENTIONAL

### Arms Interventions Module

#### Arm Group 1

**Intervention Names:**

- Dietary Supplement: Medium-Chain Triglycerides

**Label:** Medium Chain Triglyceride

**Type:** EXPERIMENTAL

### Interventions

#### Intervention 1

**Arm Group Labels:**

- Medium Chain Triglyceride

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

**Name:** Medium-Chain Triglycerides

**Type:** DIETARY_SUPPLEMENT

### Outcomes Module

#### Primary Outcomes

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

**Measure:** Heteroplasmy

**Time Frame:** 9 months

### Eligibility Module

**Eligibility Criteria:** 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.

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Houston

**Country:** United States

**Facility:** The University of Texas Health Science Center at Houston

**State:** Texas

**Zip:** 77030

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000008659

- Term: Metabolic Diseases

- ID: D000017237

- Term: Mitochondrial Encephalomyopathies

- ID: D000017240

- Term: Mitochondrial Myopathies

- ID: D000009135

- Term: Muscular Diseases

- ID: D000009140

- Term: Musculoskeletal Diseases

- ID: D000020739

- Term: Brain Diseases, Metabolic, Inborn

- ID: D000001928

- Term: Brain Diseases, Metabolic

- ID: D000001927

- Term: Brain Diseases

- ID: D000002493

- Term: Central Nervous System Diseases

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000059345

- Term: Cerebral Small Vessel Diseases

- ID: D000002561

- Term: Cerebrovascular Disorders

- ID: D000009468

- Term: Neuromuscular Diseases

- ID: D000014652

- Term: Vascular Diseases

- ID: D000002318

- Term: Cardiovascular Diseases

- ID: D000008661

- Term: Metabolism, Inborn Errors

- ID: D000030342

- Term: Genetic Diseases, Inborn

### Condition Browse Module - Browse Branches

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: BC19

- Name: Gland and Hormone Related Diseases

- Abbrev: All

- Name: All Conditions

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: BC05

- Name: Musculoskeletal Diseases

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC14

- Name: Heart and Blood Diseases

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M7115

- Name: Diabetes Mellitus

- Relevance: LOW

- As Found: Unknown

- ID: M16355

- Name: Syndrome

- Relevance: LOW

- As Found: Unknown

- ID: M19539

- Name: MELAS Syndrome

- Relevance: HIGH

- As Found: MELAS Syndrome

- ID: M23341

- Name: Mitochondrial Diseases

- Relevance: HIGH

- As Found: Mitochondrial Disease

- ID: M11639

- Name: Metabolic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M19535

- Name: Mitochondrial Encephalomyopathies

- Relevance: LOW

- As Found: Unknown

- ID: M12092

- Name: Muscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M19538

- Name: Mitochondrial Myopathies

- Relevance: LOW

- As Found: Unknown

- ID: M12097

- Name: Musculoskeletal Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5204

- Name: Brain Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5205

- Name: Brain Diseases, Metabolic

- Relevance: LOW

- As Found: Unknown

- ID: M22498

- Name: Brain Diseases, Metabolic, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M5742

- Name: Central Nervous System Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M29437

- Name: Cerebral Small Vessel Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5810

- Name: Cerebrovascular Disorders

- Relevance: LOW

- As Found: Unknown

- ID: M12411

- Name: Neuromuscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M17400

- Name: Vascular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M11641

- Name: Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: T3840

- Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes

- Relevance: HIGH

- As Found: MELAS Syndrome

### Condition Browse Module - Meshes

- ID: D000017241

- Term: MELAS Syndrome

- ID: D000028361

- Term: Mitochondrial Diseases

### Misc Info Module

- Version Holder: 2024-05-24
