Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
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|ClinicalTrials.gov Identifier: NCT01878604|
Recruitment Status : Completed
First Posted : June 17, 2013
Results First Posted : February 20, 2017
Last Update Posted : February 20, 2017
|Condition or disease||Intervention/treatment|
|Homozygous Familial Hypercholesterolemia||Genetic: Gene analysis Other: Historical data of lipid-lowering drug administration Other: Historical data of plasma lipids, xanthoma changes|
To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies:
- To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);
- 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.
|Study Type :||Observational|
|Actual Enrollment :||5 participants|
|Official Title:||The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia|
|Study Start Date :||October 2001|
|Actual Primary Completion Date :||October 2014|
|Actual Study Completion Date :||January 2015|
Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Genetic: Gene analysis
Gene analysisOther: Historical data of lipid-lowering drug administration
Collecting historical data of lipid-lowering drug administrationOther: Historical data of plasma lipids, xanthoma changes
Collecting historical data of plasma lipids and xanthoma changes
- Number of LDLR Gene Mutations [ Time Frame: 1 year ]
Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes.
c.796 G>C and c.1048 C>T in the LDLR gene c.1448 G>A and c.1720C>A in the LDLR gene c.2030 G >A and c.1257 C>A in the LDLR gene homozygous mutation c.605 T>C in the LDLR gene
- LDL-C Reduction Percentage [ Time Frame: pre-treatment and 6-13 years post treatment ]
plasma LDL-C reduction percentage with lipid-lowering drugs from pre-treatment to the last time follow-up time point
plasma LDL-C reduction percentage calculation: "plasma LDL-C at pre-treatment time point" minus "plasma LDL-C at the last time follow-up time point", and then compared with "plasma LDL-C at pre-treatment time point", namely "plasma LDL-C reduction percentage".
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01878604
|Cardiology department of 2nd Xiangya Hospital|
|Changsha, Hunan, China, 410011|
|Principal Investigator:||Shuiping Zhao, Doctor||Central South University|