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Report for Clinical Trial NCT01603446

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Pilot Study to Investigate the Efficacy of L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome.

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.

NCT01603446 MELAS Syndrome
MeSH: MELAS Syndrome Syndrome

1 Interventions

Name: L-Arginine

Description: NOW® L-Arginine powder

Type: Drug

MELAS Patients


Primary Outcomes

Description: We will study exercising quadriceps using our MR-compatible up-down ergometer and our well established aerobic exercise protocol at 65 % of maximal voluntary contraction.

Measure: Muscle function investigation via 31P-Magnetic resonance spectroscopy

Time: 60 to 105 minutes post dose

Secondary Outcomes

Description: Maximal incremental cycle ergometry is conducted in our CardioRespiratory Exercise Lab at HSC by our established protocols (26). Serum CK and quantitative AA (for arginine, ornithine and citrulline) will be measured pre- and post- exercise as well as eNO in order to correlate aerobic exercise parameters with serum arg and eNO levels..

Measure: Total body maximal aerobic capacity

Time: 60-75 mins post dose

Description: Functional MRI-Blood oxygen level dependent (BOLD) of brain

Measure: CerebroVascular Reactivity

Time: 75-105 mins post dose

Description: eNO will be measured using single breath on-line measurements for the assessment of lower airway Nitric Oxide

Measure: Exhaled Nitric Oxide (eNO)

Time: 75 mins pre dose, 75 mins post dose

Purpose: Treatment

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 A3243G

Inclusion Criteria: Experimental Siblings with MELAS (A3243G) syndrome - 17-23 years - Followed Neurometabolic Clinic at the Hospital for Sick Children will be studied. --- A3243G ---



HPO Nodes