- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00483314
Homocystinuria: Treatment With N-Acetylcysteine
Study Overview
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.
Study Type
Enrollment (Actual)
Phase
- Phase 2
Contacts and Locations
Study Locations
-
-
Quebec
-
Montreal, Quebec, Canada, H3A 1A1
- Royal Victoria Hospital
-
Montreal, Quebec, Canada, H3A 1A1
- MUHC-Royal Victoria Hospital
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: Non-Randomized
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: 1
|
2 g p.o. BID x 60 days
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Lowering plasma total homocysteine
Time Frame: 3 months
|
3 months
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Change in flow-mediated dilatation of brachial artery
Time Frame: 3 months
|
3 months
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Brian M GILFIX, MD, PhD, McGill University Health Centre/Research Institute of the McGill University Health Centre
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Connective Tissue Diseases
- Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Hyperhomocysteinemia
- Homocystinuria
- Physiological Effects of Drugs
- Molecular Mechanisms of Pharmacological Action
- Anti-Infective Agents
- Antiviral Agents
- Protective Agents
- Respiratory System Agents
- Antioxidants
- Antidotes
- Free Radical Scavengers
- Expectorants
- Acetylcysteine
- N-monoacetylcystine
Other Study ID Numbers
- #6-FY06-317
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Homocystinuria
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Travere Therapeutics, Inc.RecruitingNatural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Homocystinuria Due to CBS DeficiencyUnited States, Ireland, United Kingdom, Qatar
-
Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
-
Bambino Gesù Hospital and Research InstituteCatholic University of the Sacred HeartCompletedGenetic Disease | Retinopathy | Methylmalonic Aciduria and Homocystinuria,Cblc TypeItaly
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Travere Therapeutics, Inc.Active, not recruiting
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SynlogicCompletedHomocystinuriaUnited States
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Assistance Publique - Hôpitaux de ParisCompleted
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National Center for Research Resources (NCRR)University of California, San DiegoCompletedHomocystinuria
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University of LausanneCompleted
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University of Colorado, DenverCompletedHomocystinuriaUnited States
-
Travere Therapeutics, Inc.Recruiting
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