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Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

This study has been completed.
Information provided by (Responsible Party):
Shuiping Zhao, Central South University Identifier:
First received: June 7, 2013
Last updated: February 17, 2017
Last verified: February 2017
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.

Condition Intervention
Homozygous Familial Hypercholesterolemia
Genetic: Gene analysis
Other: Historical data of lipid-lowering drug administration
Other: Historical data of plasma lipids, xanthoma changes

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

Resource links provided by NLM:

Further study details as provided by Central South University:

Primary Outcome Measures:
  • 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 Outcome Measures:
  • 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
Blood samples

Enrollment: 5
Study Start Date: October 2001
Study Completion Date: January 2015
Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
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

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Homozygous Familial Hypercholesterolemia

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.

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Please refer to this study by its identifier: NCT01878604

China, Hunan
Cardiology department of 2nd Xiangya Hospital
Changsha, Hunan, China, 410011
Sponsors and Collaborators
Central South University
Principal Investigator: Shuiping Zhao, Doctor Central South University
  More Information

Responsible Party: Shuiping Zhao, Chief of Cardiology Department, 2nd Xiangya Hospital, Central South University Identifier: NCT01878604     History of Changes
Other Study ID Numbers: MISP50469
Study First Received: June 7, 2013
Results First Received: October 31, 2016
Last Updated: February 17, 2017

Additional relevant MeSH terms:
Hyperlipoproteinemia Type II
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hypolipidemic Agents
Molecular Mechanisms of Pharmacological Action
Lipid Regulating Agents processed this record on May 22, 2017