Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
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.
|Official Title:||The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia|
- Number of gene mutations (known gene and novel gene) related to HoFH in Chinese patients [ Time Frame: 1 year ] [ Designated as safety issue: No ]Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes.
- LDL-C reduction at Year 1 in Chinese HoFH patients [ Time Frame: 1 year ] [ Designated as safety issue: No ]serum LDL-C reduction at Year 1 with triple-combination therapy among Chinese HoFH patients
Biospecimen Retention: Samples With DNA
|Study Start Date:||July 2013|
|Estimated Study Completion Date:||April 2015|
|Estimated Primary Completion Date:||April 2015 (Final data collection date for primary outcome measure)|
Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Other: Gene analysis
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.
|Contact: Shuiping Zhao, Doctoremail@example.com|
|Cardiology department of 2nd Xiangya Hospital||Not yet recruiting|
|Changsha, Hunan, China, 410011|
|Contact: Minjie Lin 86-13467550637 firstname.lastname@example.org|
|Principal Investigator:||Shuiping Zhao, Doctor||Central South University|