NCT01878604

Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 5 (actual)
• Sponsor: Central South University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Homozygous Familial Hypercholesterolemia

Interventions

Type	Name	Description
GENETIC	Gene analysis	Gene analysis
OTHER	Historical data of lipid-lowering drug administration	Collecting historical data of lipid-lowering drug administration
OTHER	Historical data of plasma lipids, xanthoma changes	Collecting historical data of plasma lipids and xanthoma changes

Timeline

• Start date: 2001-10-01
• Primary completion: 2014-10-01
• Completion: 2015-01-01
• First posted: 2013-06-17
• Last updated: 2017-02-20
• Results posted: 2017-02-20

Locations

1 site across 1 country: China