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Homocystinuria: Treatment With N-Acetylcysteine

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ClinicalTrials.gov Identifier: NCT00483314
Recruitment Status : Completed
First Posted : June 7, 2007
Last Update Posted : February 18, 2009
Sponsor:
Collaborator:
March of Dimes
Information provided by:
McGill University Health Centre/Research Institute of the McGill University Health Centre

Study Description
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Brief Summary:
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.

Condition or disease Intervention/treatment Phase
Homocystinuria Drug: N-acetylcysteine Phase 2

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.
Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 5 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Homocystinuria: Treatment With N-Acetylcysteine
Study Start Date : November 2007
Actual Primary Completion Date : December 2008
Actual Study Completion Date : February 2009

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
Experimental: 1 Drug: N-acetylcysteine
2 g p.o. BID x 60 days
Other Name: NAC


Outcome Measures
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Primary Outcome Measures :
  1. Lowering plasma total homocysteine [ Time Frame: 3 months ]

Secondary Outcome Measures :
  1. Change in flow-mediated dilatation of brachial artery [ Time Frame: 3 months ]

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00483314


Locations
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Canada, Quebec
MUHC-Royal Victoria Hospital
Montreal, Quebec, Canada, H3A 1A1
Royal Victoria Hospital
Montreal, Quebec, Canada, H3A 1A1
Sponsors and Collaborators
McGill University Health Centre/Research Institute of the McGill University Health Centre
March of Dimes
Investigators
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Principal Investigator: Brian M GILFIX, MD, PhD McGill University Health Centre/Research Institute of the McGill University Health Centre
More Information
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Additional Information:

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Responsible Party: Brian M. Gilfix, Principal Investigator, McGill University Health Centre
ClinicalTrials.gov Identifier: NCT00483314    
Other Study ID Numbers: #6-FY06-317
First Posted: June 7, 2007    Key Record Dates
Last Update Posted: February 18, 2009
Last Verified: February 2009
Additional relevant MeSH terms:
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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
Expectorants
Respiratory System Agents
Free Radical Scavengers
Antioxidants
Molecular Mechanisms of Pharmacological Action
Protective Agents
Physiological Effects of Drugs
Antidotes