Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
NCT ID: NCT01878604
Last Updated: 2017-02-20
Study Results
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View full resultsBasic Information
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COMPLETED
5 participants
OBSERVATIONAL
2001-10-31
2015-01-31
Brief Summary
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Detailed Description
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1. To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);
2. To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels.
3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.
Conditions
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Study Design
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CASE_ONLY
RETROSPECTIVE
Study Groups
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Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Gene analysis
Gene analysis
Historical data of lipid-lowering drug administration
Collecting historical data of lipid-lowering drug administration
Historical data of plasma lipids, xanthoma changes
Collecting historical data of plasma lipids and xanthoma changes
Interventions
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Gene analysis
Gene analysis
Historical data of lipid-lowering drug administration
Collecting historical data of lipid-lowering drug administration
Historical data of plasma lipids, xanthoma changes
Collecting historical data of plasma lipids and xanthoma changes
Eligibility Criteria
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Inclusion Criteria
* Cutaneous xanthomata before the age of ten years
* LDLC \> 13 mmol/L before treatment or \> 7.76 mmol/L despite treatment
* Phenotypic features in keeping with HeFH in both parents
Exclusion Criteria
ALL
No
Sponsors
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Central South University
OTHER
Responsible Party
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Shuiping Zhao
Chief of Cardiology Department, 2nd Xiangya Hospital
Principal Investigators
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Shuiping Zhao, Doctor
Role: PRINCIPAL_INVESTIGATOR
Central South University
Locations
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Cardiology department of 2nd Xiangya Hospital
Changsha, Hunan, China
Countries
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Other Identifiers
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MISP50469
Identifier Type: -
Identifier Source: org_study_id
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