HomocystinuriaNCT00004356
Study of Homocysteine Metabolism in Homocystinuria
An observational study of Homocystinuria, run by National Center for Research Resources (NCRR).
Trial summary
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR. II. Read more about this study
- Who is it for?
- Ages 0 years and olderHealthy volunteers can take part
- Conditions the study is for
- Homocystinuria
- How many people
- 60 participants
- Where
- No sites listed yet
- Study dates
- Feb 1995to Oct 2000
- Phase
- Observational
- 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 0 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease
About this study
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR.
II. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.
Read the detailed description
PROTOCOL OUTLINE: This is a two-part study of homocysteine metabolism. Age-matched normal controls are entered in both parts of the study.
In first part of the study, participants are given oral methionine; baseline and postmethionine studies include amino acid quantitation, analysis of rapidly deproteinized plasma, and total plasma homocysteine.
In the second part of the study, participants (men and postmenopausal women only) undergo methionine tracer studies.
- Conditions
- Homocystinuria
- Keywords
- homocystinuria, inborn errors of metabolism, rare disease
- Medical subject headings
- Homocystinuria, Metabolism, Inborn Errors, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 1999 (estimated)
- Study startFeb 1995
- Study completionOct 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for HomocystinuriaStudies of the same condition, open and under way.
- 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
- Observational
- Enrolment
- 60 participants
Sponsor and investigators
- Lead sponsor
- National Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- University of California, San Diego
- Investigators
- Bruce Barshop, Study chair, University of California, San Diego
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004356
- Sponsor's protocol ID
- 199/11920
- Other IDs
- UCSD-1033
- Status last verified
- Dec 2001
- First submitted
- 18 Oct 1999
- Last updated
- 24 Jun 2005
- Results posted
- No
Publications
Page T, Barshop B, Yu AL, Nyhan WL. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994;370:353-6. doi: 10.1007/978-1-4615-2584-4_76. No abstract available.
PubMed 7660927
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Homocysteine Metabolism in Homocystinuria
- ClinicalTrials.gov ID
- NCT00004356
- Acronym / sponsor ID
- 199/11920
- Conditions
- Homocystinuria
- Keywords
- homocystinuria, inborn errors of metabolism, rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- University of California, San Diego
- Study start
- Feb 1995
- Study completion
- Oct 2000
- First posted
- 19 Oct 1999 (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.
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR.
II. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.
Detailed description
PROTOCOL OUTLINE: This is a two-part study of homocysteine metabolism. Age-matched normal controls are entered in both parts of the study.
In first part of the study, participants are given oral methionine; baseline and postmethionine studies include amino acid quantitation, analysis of rapidly deproteinized plasma, and total plasma homocysteine.
In the second part of the study, participants (men and postmenopausal women only) undergo methionine tracer studies.
Study design
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
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 24 Jun 2005.
- Background: PubMed 7660927Page T, Barshop B, Yu AL, Nyhan WL. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994;370:353-6. doi: 10.1007/978-1-4615-2584-4_76. No abstract available.
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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.
Bruce Barshop study chair
University of California, San Diego
Questions about this trial
What is this clinical trial studying?
An observational study of Homocystinuria, run by National Center for Research Resources (NCRR).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
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 24 Jun 2005. Status can change between updates, so confirm with the study contact before making plans.
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.
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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00004356, which also lists 1 linked publication.
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 24 Jun 2005.