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Homocystinuria: Treatment With N-Acetylcysteine

This study has been completed.
March of Dimes
Information provided by:
McGill University Health Center Identifier:
First received: June 5, 2007
Last updated: February 16, 2009
Last verified: February 2009
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.

Condition Intervention Phase
Drug: N-acetylcysteine
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Homocystinuria: Treatment With N-Acetylcysteine

Resource links provided by NLM:

Further study details as provided by McGill University Health Center:

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

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

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:

  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.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
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Please refer to this study by its identifier: NCT00483314

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 Center
March of Dimes
Principal Investigator: Brian M GILFIX, MD, PhD McGill University Health Center
  More Information

Additional Information:
Responsible Party: Brian M. Gilfix, Principal Investigator, McGill University Health Centre Identifier: NCT00483314     History of Changes
Other Study ID Numbers: #6-FY06-317
Study First Received: June 5, 2007
Last Updated: February 16, 2009

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Connective Tissue Diseases
Metabolic Diseases
Antiviral Agents
Anti-Infective Agents
Respiratory System Agents
Free Radical Scavengers
Molecular Mechanisms of Pharmacological Action
Protective Agents
Physiological Effects of Drugs
Antidotes processed this record on April 25, 2017