The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Homozygous Familial Hypercholesterolemia
- Sponsor
- Central South University
- Enrollment
- 5
- Locations
- 1
- Primary Endpoint
- Number of LDLR Gene Mutations
- Status
- Completed
- Last Updated
- 9 years ago
Overview
Brief Summary
Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.
Detailed Description
To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies: 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.
Investigators
Shuiping Zhao
Chief of Cardiology Department, 2nd Xiangya Hospital
Central South University
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
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
Secondary Outcomes
- LDL-C Reduction Percentage(pre-treatment and 6-13 years post treatment)