Homocystinuria Clinical Trial
Official title:
Homocystinuria: Treatment With N-Acetylcysteine
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.
Homocystinuria (MIM 236200) due to CBS deficiency is the most common inborn error of sulfur
amino acid metabolism with severe clinical manifestations. We propose:
1. 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.
2. Measurement of flow-mediated vasodilation of the brachial artery (endothelial function)
in response to NAC treatment. Endothelial dysfunction is a precursor of atherogenesis.
3. 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.
;
Allocation: Non-Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
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