Nitric Oxide Production in MELAS Syndrome

Introduction

Baylor College of Medicine and Texas Children's Hospital are recruiting individuals with MELAS syndrome for a clinical study. MELAS syndrome is a mitochondrial disease; patients with this disease have muscle weakness and often develop brain strokes, where blood does not flow normally to different parts of the brain. It is believed that these strokes could be due to decreased production of nitric oxide, a naturally occurring compound important for normal blood vessel function. Nitric oxide is made from arginine and citrulline that are normally found in our bodies.

What is the purpose of this study? The purpose of this study is to measure nitric oxide in individuals with MELAS and see if giving arginine or citrulline will increase the formation of nitric oxide. Nitric oxide is thought to be helpful in preventing strokes. Therefore, if arginine and/or citrulline are shown to increase the formation of nitric oxide, they could be used to prevent or treat the strokes in patients with MELAS syndrome.

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Key information

Conditions

MELAS Syndrome Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases Mitochondrial Encephalomyopathies Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Vascular Diseases

Age range

3 year–65 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Early Phase 1

Primary location

Texas Children's Hospital

Houston, Texas, 77030, United States

About this study

What does the study involve? Individuals with MELAS syndrome will be admitted twice to the General Clinical Research Center (GCRC) at Texas Children's Hospital. Each time they will stay for five days, during which a special diet will be provided. Nitric oxide production will be measured by stable isotopes infusion technique that involves placing small tubes in veins (IV catheter), blood sampling, and injecting a harmless stable isotope. Stable isotopes are forms of normal compounds that can be measured accurately. They are not radioactive and there are no known risks to giving them; they are already part of your body in small amounts.

During the first admission nitric oxide levels will be measured, then arginine supplementation will be provided for 48 hours, after which nitric oxide levels will be re-measured to determine the effect of arginine supplementation. During the second admission, the effect of citrulline supplementation will be measured.

Who can participate in the study? Adults or children affected with MELAS syndrome and carrying the DNA change that causes the condition (3243 A>G mutation) can participate. Adults without MELAS disease will be recruited to participate as control subjects.

How to get more information? Subjects interested in participation or getting more information can contact Dr. Ayman El-Hattab at email: [email protected], office phone: 832-822-4289, cell phone: 646-660-5666, or pager: 832-824-7243 (5523).

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Age from 3 - 65 years
Clinical diagnosis of MELAS syndrome
Carrying the m.3243A>G mutation

Exclusion criteria

Having acute or chronic disease or physical disability that will interfere with the ability to undergo the study procedures
Being pregnant

Treatment and study plan

Arginine and citrulline supplementations

Dietary Supplement

Arginine or citrulline will be given orally at dose of 10 grams per meter square body surface area per day divided every 4 hours.

Primary outcomes

Change in nitric oxide production

Time frame: Nitric oxide production will be measured at baseline before supplementation and after 48 hours of arginine or citrulline supplementation

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Registry information

Official study title

Arginine Flux and Nitric Oxide Production in Patients With MELAS Syndrome and the Effect of Arginine and Citrulline Supplementation

Important dates

Study start: 2009
Primary completion: 2016
Study completion: 2016
First posted: Apr 20, 2011
Registry last updated: Apr 5, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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