Completed

Genetic Analysis of Sitosterolemia via Blood Samples

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Study Aim

This observational study aims to analyze blood samples to understand the genetic factors associated with Sitosterolemia, a condition characterized by high levels of plant sterols in the blood.

What is being collected

Procedure Data

Procedure
Who is being recruted

Metabolic Diseases+9

+ Congenital, Hereditary, and Neonatal Diseases and Abnormalities

+ Nutritional and Metabolic Diseases

See all eligibility criteria
How is the trial designed

Natural History

Observing the progression of a disease in untreated individuals in order to understand its typical course and outcomes.
Observational
Study Start: November 1999
See protocol details

Summary

Principal SponsorNational Center for Research Resources (NCRR)
Last updated: June 24, 2005
Sourced from a government-validated database.Claim as a partner

Study start date: November 1, 1999

Actual date on which the first participant was enrolled.

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.

NCT00004481
Principal SponsorNational Center for Research Resources (NCRR)
Last updated: June 24, 2005
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Natural History

These studies observe how a disease progresses over time without active treatment. They help researchers understand how conditions typically develop, change, and impact quality of life.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Healthy volunteers allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNutritional and Metabolic DiseasesPathologic ProcessesPathological Conditions, Signs and SymptomsDisease AttributesGenetic Diseases, InbornLipid Metabolism DisordersEndocrine System DiseasesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsRare Diseases

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 OR Family member of patient with sitosterolemia OR Normal volunteer

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Medical University of South Carolina

Charleston, United StatesOpen Medical University of South Carolina in Google Maps
CompletedOne Study Center