Nitric Oxide Production in MELAS Syndrome

NCT01339494 | Completed Early Phase 1

• 1 other identifier: H-24783
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

MELAS Syndrome

Outcome Measures

Primary Outcomes (1)

• Change in nitric oxide production

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

Study Arms (2)

arginine supplementation

ACTIVE COMPARATOR

Oral L-arginine supplementation will be administered to subjects with MELAS for 48 hours at a dose of 10 grams per M2 per day. Arginine will be given every 4 hours.

Dietary Supplement: Arginine and citrulline supplementations

citrulline supplementation

ACTIVE COMPARATOR

Oral L-citrulline supplementation will be administered to subjects with MELAS for 48 hours at a dose of 10 grams per M2 per day. Citrulline will be given every 4 hours

Dietary Supplement: Arginine and citrulline supplementations

Interventions

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.

arginine supplementation; citrulline supplementation

Eligibility Criteria

• Age: 3 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Baylor College of Medicine: lead

Study Sites (1)

Texas Children's Hospital

Houston, Texas, 77030, United States

Location

MeSH Terms

Conditions

MELAS Syndrome

Interventions

Arginine

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Amino Acids, Basic; Amino Acids; Amino Acids, Peptides, and Proteins; Amino Acids, Diamino; Amino Acids, Essential

Study Officials

• Fernando Scaglia, M.D.

  Baylor College of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: April 19, 2011
• First Posted: April 20, 2011
• Study Start: July 1, 2009
• Primary Completion: April 1, 2016
• Study Completion: April 1, 2016
• Last Updated: April 5, 2016

Record last verified: 2016-04

Data Sharing

• IPD Sharing: Will share

Locations

US (1)