HomocystinuriaPhase 2NCT00483314
Homocystinuria: Treatment With N-Acetylcysteine
A Phase 2 study testing N-acetylcysteine in people with Homocystinuria, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 2 sites in Canada.
Trial summary
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Homocystinuria
- What is being tested?
- N-acetylcysteine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 2 sitesCanada
- Study dates
- Nov 2007to Feb 2009
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Homocystinuria (lens dislocation and hyperhomocysteinemia)
- Age ≥ 18 (the age of majority in Canada)
Who cannot join
- Nursing mothers or pregnant women
- Chronic liver disease
- Taking nitrates
- Cystine stone formers
- History of active peptic ulcer disease
- Subjects receiving carbamazepine and metoclopramide
Show all 11Show fewer
- 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
Trial locations and contacts
2 sites in 1 country.
Canada2 sites
MUHC-Royal Victoria Hospital
Montreal, Quebec, H3A 1A1
Royal Victoria Hospital
Montreal, Quebec, H3A 1A1
About this study
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:
- 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.
- Conditions
- Homocystinuria
- Being tested
- N-acetylcysteine
- Medical subject headings
- Homocystinuria
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
N-acetylcysteineDrug
Also called NAC
2 g p.o. BID x 60 days
| Study group | Role | What they receive |
|---|---|---|
| 1 | Experimental | Not described Receives: Drug: N-acetylcysteine |
What is being measured
The primary outcome is the main question the study is designed to answer.
Lowering plasma total homocysteine
Measured: 3 months
Secondary outcomes (1)
Change in flow-mediated dilatation of brachial artery
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jun 2007 (estimated)
- Study startNov 2007
- Primary completionDec 2008
- Study completionFeb 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HomocystinuriaStudies of the same condition, open and under way.
- More trials run by McGill University Health Centre/Research Institute of the McGill University Health CentreThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
- Sponsor type
- University, hospital or other
- Collaborators
- March of Dimes
- Investigators
- Brian M GILFIX, MD, PhD, Principal investigator, McGill University Health Centre/Research Institute of the McGill University Health Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00483314
- Sponsor's protocol ID
- #6-FY06-317
- Status last verified
- Feb 2009
- First submitted
- 5 Jun 2007
- Last updated
- 18 Feb 2009
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Feb 2009. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Homocystinuria: Treatment With N-Acetylcysteine
- ClinicalTrials.gov ID
- NCT00483314
- Acronym / sponsor ID
- #6-FY06-317
- Conditions
- Homocystinuria
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- McGill University Health Centre/Research Institute of the McGill University Health CentreUniversity, hospital or other
- Collaborators
- March of Dimes
- Study start
- Nov 2007
- Primary completion
- Dec 2008 (actual)
- Study completion
- Feb 2009 (actual)
- First posted
- 7 Jun 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.
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 design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | Experimental | Drug: N-acetylcysteine |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Homocystinuria (lens dislocation and hyperhomocysteinemia)
- Age ≥ 18 (the age of majority in Canada)
Key exclusion criteria (11 listed)
- Nursing mothers or pregnant women
- Chronic liver disease
- Taking nitrates
- Cystine stone formers
- History of active peptic ulcer disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| N-acetylcysteineAlso: NAC2 g p.o. BID x 60 days | Drug | 1 |
Primary outcome
Lowering plasma total homocysteine
Time frame: 3 months
1 secondary outcome
Change in flow-mediated dilatation of brachial artery
Time frame: 3 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Feb 2009.
- funding agencyLink provided by the sponsor.
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A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Brian M GILFIX, MD, PhD principal investigator
McGill University Health Centre/Research Institute of the McGill University Health Centre
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing N-acetylcysteine in people with Homocystinuria, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 2 sites in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Feb 2009. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Lowering plasma total homocysteine (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Feb 2009.