Nitric Oxide Production in MELAS Syndrome
Condition: MELAS Syndrome
MeSH terms: MELAS Syndrome; Syndrome
Study type: Interventional
Phase: Early Phase 1

Summary: 
      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.
    

Detailed description: 
      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: elhattab@bcm.edu, office phone: 832-822-4289, cell
      phone: 646-660-5666, or pager: 832-824-7243 (5523).
    

Intervention name(s): Arginine and citrulline supplementations
Intervention type(s): Dietary Supplement
Intervention description(s): Arginine or citrulline will be given orally at dose of 10 grams per meter square body surface area per day divided every 4 hours.
Allocation: Non-Randomized
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Treatment