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CompletedNCT00483314Updated Feb 18, 2009

Homocystinuria: Treatment With N-Acetylcysteine

A Phase 2 interventional study of N-acetylcysteine in Homocystinuria, sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre. Completed at 2 sites in Canada. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2009-02-18.

Sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre · Phase 2, Interventional, and Treatment

Phase
Phase 2
Study type
Interventional
Enrollment
5
Allocation
Non-randomized
Ages
18 Years and older
Sex
All
01

Study summary

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

Read the 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.
02

Conditions studied

  • Homocystinuria
03

In context

Lead sponsor

McGill University Health Centre/Research Institute of the McGill University Health Centre is the lead sponsor of 414 studies on the registry; 106 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

  • Homocystinuria (lens dislocation and hyperhomocysteinemia)
  • Age ≥ 18 (the age of majority in Canada)

Exclusion criteria

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
05

Study design

Phase
Phase 2
Primary purpose
Treatment
Allocation
Non-randomized
Intervention model
Single group
Masking
None (open label)
Enrollment
5 participants (actual)

Study arms

  • Experimental
    1

    Drug: N-acetylcysteine

Interventions

  • DrugN-acetylcysteine

    2 g p.o. BID x 60 days

    Also known as: NAC

06

What researchers measure

Primary outcomes

  1. Lowering plasma total homocysteine

    Time frame: 3 months

Secondary outcomes

  1. Change in flow-mediated dilatation of brachial artery

    Time frame: 3 months

07

Study locations

2 sites
  • MUHC-Royal Victoria Hospital
    Montreal, Quebec H3A 1A1, Canada
  • Royal Victoria Hospital
    Montreal, Quebec H3A 1A1, Canada
08

References and documents

Related links

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Feb 18, 2009, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT00483314
Lead sponsor
McGill University Health Centre/Research Institute of the McGill University Health Centre
Collaborators
March of Dimes
First posted
Jun 7, 2007
Start date
Nov 2007
Primary completion
Dec 2008
Completion
Feb 2009
Last update
Feb 18, 2009

Study contacts

Brian M GILFIX, MD, PhD
principal investigator · McGill University Health Centre/Research Institute of the McGill University Health Centre

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Feb 2009. You cannot join it, but the record below documents what was studied.

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