Lipid Metabolism, Inborn ErrorsNCT00004481
Genetic Study of Sitosterolemia
An observational study of Lipid Metabolism, Inborn Errors and Sitosterolemia, run by National Center for Research Resources (NCRR) at 1 site in United States.
Trial summary
OBJECTIVES: I. Identify the genetic defect and fine map the gene that causes sitosterolemia. Read more about this study
- Who is it for?
- Ages 0 years and olderHealthy volunteers can take part
- Conditions the study is for
- Lipid Metabolism, Inborn Errors, Sitosterolemia
- What is being tested?
- genetic testing
- Type of treatment
- Surgery or procedure
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Nov 1999to not given
- 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--
- Diagnosis of sitosterolemia Presence of tendon and tuberous xanthomas Premature atherosclerotic disease No family history of premature coronary artery disease Normal or elevated plasma cholesterol levels
OR
- Family member of patient with sitosterolemia
OR
- Normal volunteer
Trial locations and contacts
1 site in 1 country.
United States1 site
Medical University of South Carolina
Charleston, South Carolina, 29425-0721
About this study
OBJECTIVES:
- Identify the genetic defect and fine map the gene that causes sitosterolemia.
Read the detailed description
PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for genetic studies and may fill out a general health and medication history.
Linkage analysis and microsatellite screening is performed on genomic DNA, especially chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.
Positive results may be reported to the patient and may influence future treatment.
- Conditions
- Lipid Metabolism, Inborn Errors, Sitosterolemia
- Being tested
- genetic testing
- Keywords
- endocrine disorders, inborn errors of metabolism, rare disease, sitosterolemia
- Medical subject headings
- Lipid Metabolism, Inborn Errors, Sitosterolemia, Endocrine System Diseases, Metabolism, Inborn Errors, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic testingProcedure or surgery
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 startNov 1999
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lipid Metabolism, Inborn ErrorsStudies 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
- Observational model
- Natural history
Sponsor and investigators
- Lead sponsor
- National Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- Medical University of South Carolina
- Investigators
- Shailesh B. Patel, Study chair, Medical University of South Carolina
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004481
- Sponsor's protocol ID
- NCRR-M01RR01070-0470
- Other IDs
- MUSC-HR-8022
- Status last verified
- Jan 2004
- First submitted
- 18 Oct 1999
- Last updated
- 24 Jun 2005
- Results posted
- No
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
- Genetic Study of Sitosterolemia
- ClinicalTrials.gov ID
- NCT00004481
- Acronym / sponsor ID
- NCRR-M01RR01070-0470
- Conditions
- Lipid Metabolism, Inborn Errors, Sitosterolemia
- Keywords
- endocrine disorders, inborn errors of metabolism, rare disease, sitosterolemia
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- Medical University of South Carolina
- Study start
- Nov 1999
- 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:
- Identify the genetic defect and fine map the gene that causes sitosterolemia.
Detailed description
PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for genetic studies and may fill out a general health and medication history.
Linkage analysis and microsatellite screening is performed on genomic DNA, especially chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.
Positive results may be reported to the patient and may influence future treatment.
Study design
- Observational model
- Natural history
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.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| genetic testing | Procedure or surgery | – |
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.
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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.
Shailesh B. Patel study chair
Medical University of South Carolina
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lipid Metabolism, Inborn Errors and Sitosterolemia, run by National Center for Research Resources (NCRR) at 1 site in United States.
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.
Where is the study taking place?
The record lists 1 site in United States. 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.
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?
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.