Ignite Creation Date:
2024-05-05 @ 5:33 PM
Last Modification Date:
2024-10-26 @ 9:33 AM
Study NCT ID:
NCT00483314
Status:
COMPLETED
Last Update Posted:
2009-02-18
First Post:
2007-06-05
Brief Title:
Homocystinuria Treatment With N-Acetylcysteine
Sponsor:
McGill University Health CentreResearch Institute of the McGill University Health Centre
Organization:
McGill University Health CentreResearch Institute of the McGill University Health Centre
Study Overview
Official Title:
Homocystinuria Treatment With N-Acetylcysteine
Status:
COMPLETED
Status Verified Date:
2009-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria
Detailed Description:
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None