L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome

• Status: Completed
• Trial end date: 2013-12-01
• Target enrollment: 0
• Participant gender: All

Summary

MELAS patients suffer from exercise intolerance, weakness, poor vision or blindness, poor growth, developmental delay, and deafness. They also have unique 'stroke-like' episodes (SLEs) which are not due to blockages of large or medium arteries. These 'strokes' are thought to be due to energy failure of very small brain blood vessels combined with energy failure in the mitochondria (cell battery) of the brain cells, especially in the back region of the brain in the vision centre. This leads to visual loss and paralysis. The overall goal of this study is to better understand the mechanism of these SLEs at the level of the brain cells and small blood vessels.

• Phase: Phase 2
• Accepts Healthy Volunteers?: Accepts Healthy Volunteers

Details

• Lead Sponsor: The Hospital for Sick Children

Criteria

Inclusion Criteria:

Experimental Siblings with MELAS (A3243G) syndrome

• 17-23 years

• Followed Neurometabolic Clinic at the Hospital for Sick Children will be studied.

• Normal electrolytes, glucose, renal and liver functions & no history of gastrointestinal, respiratory or cardiac problems.

Controls

-Aged 17-23- Sex matched to the MELAS subjects

Exclusion Criteria:

Controls

• Experience migraines

• Have a metabolic disorder

• Taking medications predisposing to lactic acidosis or vasodilatation

• Neuromuscular/neurologic condition

• Cardiac or pulmonary disease

• Visual abnormalities

• Hypertension, anemia and prothrombotic state. Control subjects

• Contraindication for MRI (pacemaker, ocular metal, claustrophobia, tattoos) will be excluded from the study.