Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01878604
• Other study ID #: MISP50469
• Status: Completed
• Phase: N/A
• First received: June 7, 2013
• Last updated: February 17, 2017
• Start date: October 2001
• Est. completion date: January 2015

Study information

• Verified date: February 2017
• Source: Central South University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5
• Est. completion date: January 2015
• Est. primary completion date: October 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion criteria:

Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:

• 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:

Inability of patient, or, if less than 18, a parent, to sign informed consent.

Related Conditions & MeSH terms

• Homozygous Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Genetic:
• Gene analysis
Gene analysis

Other:
• 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

Locations

Country	Name	City	State
China	Cardiology department of 2nd Xiangya Hospital	Changsha	Hunan

Sponsors (1)

Lead Sponsor	Collaborator
Central South University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of LDLR Gene Mutations	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	1 year
Secondary	LDL-C Reduction Percentage	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".	pre-treatment and 6-13 years post treatment