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Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified June 2013 by Central South University.
Recruitment status was:  Not yet recruiting
Information provided by (Responsible Party):
Shuiping Zhao, Central South University Identifier:
First received: June 7, 2013
Last updated: June 13, 2013
Last verified: June 2013
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
Other: Gene analysis

Study Type: Observational
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 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.

Secondary Outcome Measures:
  • 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
Blood samples

Estimated Enrollment: 25
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)
Groups/Cohorts Assigned Interventions
Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Other: Gene analysis
Gene analysis

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
Genders Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Homozygous Familial Hypercholesterolemia

Inclusion Criteria:

  • Homozygous Familial Hypercholesterolemia

Exclusion Criteria:

  Contacts and Locations
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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
Last Updated: June 13, 2013
Health Authority: China: Food and Drug Administration

Additional relevant MeSH terms:
Hyperlipoproteinemia Type II
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias processed this record on January 17, 2017