Genetic Study of Sitosterolemia | NCT00004481

Studies
Genetic Study of Sitosterolemia

NCT00004481

Sponsor

National Center for Research Resources (NCRR)

Status

Completed

Last Update Posted

Jun 24, 2005Estimated

Enrollment

Not provided

Phase

Not provided

Conditions

Lipid Metabolism, Inborn Errors
Sitosterolemia

Interventions

genetic testing

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
MUSC-HR-8022

Status Module

Record Verification Date

Jan 2004

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 1999

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

Oct 18, 1999

First Submission Date that Met QC Criteria

Oct 18, 1999

First Posted Date

Oct 19, 1999Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 23, 2005

Last Update Posted Date

Jun 24, 2005Estimated

Name	Class
Medical University of South Carolina	OTHER

Description Module

Brief Summary

OBJECTIVES:

I. 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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

Not provided

Name	Type	Description	Arm Group Labels	Other Names
genetic testing	Procedure

Eligibility Module

Eligibility Criteria

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

Family member of patient with sitosterolemia

Normal volunteer

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Shailesh B. Patel	Medical University of South Carolina	Study Chair

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Medical University of South Carolina		Charleston	South Carolina	29425-0721	United States

Condition Browse Module

MeSH Terms

ID	Term
D008052	Lipid Metabolism, Inborn Errors
C537345	Sitosterolemia
D004700	Endocrine System Diseases
D008661	Metabolism, Inborn Errors
D035583	Rare Diseases

Ancestor Terms

ID	Term
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D052439	Lipid Metabolism Disorders
D008659	Metabolic Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided