Clinical Trial: Homocystinuria: Treatment With N-Acetylcysteine
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Homocystinuria: Treatment With N-Acetylcysteine
Brief Summary: The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.
Detailed Summary:
Homocystinuria (MIM 236200) due to CBS deficiency is the most common inborn error of sulfur amino acid metabolism with severe clinical manifestations. We propose:
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An open-label pilot study of N-acetylcysteine (NAC) to lower plasma homocysteine levels in those that have not responded to conventional treatment which includes betaine (Cystadane®, Orphan Medical Inc.), which while lowering Hcy levels does not normalize it, and is very expensive. There are no known contraindications to NAC used for nutritional supplementation and it is relatively inexpensive.
Oral NAC has reduced total plasma homocysteine in healthy subjects in a dose-dependent fashion.
- Measurement of flow-mediated vasodilation of the brachial artery (endothelial function) in response to NAC treatment. Endothelial dysfunction is a precursor of atherogenesis.
- Sequencing the CBS gene in these individuals in order to identify novel mutations causing homocystinuria and identify polymorphisms in other genes that may affect response to treatment.
Sponsor: McGill University Health Center
Current Primary Outcome: Lowering plasma total homocysteine [ Time Frame: 3 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome: Change in flow-mediated dilatation of brachial artery [ Time Frame: 3 months ]
Original Secondary Outcome: Same as current
Information By: McGill University Health Center
Dates:
Date Received: June 5, 2007
Date Started: November 2007
Date Completion:
Last Updated: February 16, 2009
Last Verified: February 2009
