Homocystinuria: Treatment With N-Acetylcysteine
This study has been completed.
Sponsor:
McGill University Health Center
Collaborator:
March of Dimes
Information provided by:
McGill University Health Center
ClinicalTrials.gov Identifier:
NCT00483314
First received: June 5, 2007
Last updated: February 16, 2009
Last verified: February 2009
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Purpose
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.
| Condition | Intervention | Phase |
|---|---|---|
|
Homocystinuria |
Drug: N-acetylcysteine |
Phase 2 |
| Study Type: | Interventional |
| Study Design: | Allocation: Non-Randomized Endpoint Classification: Efficacy Study Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Treatment |
| Official Title: | Homocystinuria: Treatment With N-Acetylcysteine |
Resource links provided by NLM:
Genetics Home Reference related topics:
argininosuccinic aciduria
citrullinemia
homocystinuria
N-acetylglutamate synthase deficiency
ornithine translocase deficiency
succinic semialdehyde dehydrogenase deficiency
Drug Information available for:
Acetylcysteine
U.S. FDA Resources
Further study details as provided by McGill University Health Center:
Primary Outcome Measures:
- Lowering plasma total homocysteine [ Time Frame: 3 months ] [ Designated as safety issue: No ]
Secondary Outcome Measures:
- Change in flow-mediated dilatation of brachial artery [ Time Frame: 3 months ] [ Designated as safety issue: No ]
| Enrollment: | 5 |
| Study Start Date: | November 2007 |
| Study Completion Date: | February 2009 |
| Primary Completion Date: | December 2008 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
| Experimental: 1 |
Drug: N-acetylcysteine
2 g p.o. BID x 60 days
Other Name: NAC
|
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:
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.
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Criteria
Inclusion Criteria:
- Homocystinuria (lens dislocation and hyperhomocysteinemia)
- Age ≥ 18 (the age of majority in Canada)
Exclusion Criteria:
- Nursing mothers or pregnant women
- Chronic liver disease
- Taking nitrates
- Cystine stone formers
- History of active peptic ulcer disease
- Subjects receiving carbamazepine and metoclopramide
- Use of other products containing cysteine or N-acetylcysteine (e.g. nebulized NAC, cysteine supplements, methionine restriction)
- Hypersensitivity to any ingredient in the study product
- Clinically significant, abnormal laboratory test on screening (Visit 2)
Other Criteria:
- Women of child-bearing capacity must be using an acceptable method of birth control and have a negative pregnancy test before being enrolled
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00483314
Locations
| Canada, Quebec | |
| Royal Victoria Hospital | |
| Montreal, Quebec, Canada, H3A 1A1 | |
| MUHC-Royal Victoria Hospital | |
| Montreal, Quebec, Canada, H3A 1A1 | |
Sponsors and Collaborators
McGill University Health Center
March of Dimes
Investigators
| Principal Investigator: | Brian M GILFIX, MD, PhD | McGill University Health Center |
More Information
Additional Information:
No publications provided
| Responsible Party: | Brian M. Gilfix, Principal Investigator, McGill University Health Centre |
| ClinicalTrials.gov Identifier: | NCT00483314 History of Changes |
| Other Study ID Numbers: | #6-FY06-317 |
| Study First Received: | June 5, 2007 |
| Last Updated: | February 16, 2009 |
| Health Authority: | Canada: Health Canada |
Additional relevant MeSH terms:
|
Homocystinuria Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Hyperhomocysteinemia Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Connective Tissue Diseases Metabolic Diseases Acetylcysteine |
N-monoacetylcystine Antiviral Agents Anti-Infective Agents Therapeutic Uses Pharmacologic Actions Expectorants Respiratory System Agents Free Radical Scavengers Antioxidants Molecular Mechanisms of Pharmacological Action Protective Agents Physiological Effects of Drugs Antidotes |
ClinicalTrials.gov processed this record on May 22, 2013