Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified June 2013 by Central South University
Sponsor:
Information provided by (Responsible Party):
Shuiping Zhao, Central South University
ClinicalTrials.gov Identifier:
NCT01878604
First received: June 7, 2013
Last updated: June 13, 2013
Last verified: June 2013
  Purpose

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Homozygous Familial Hypercholesterolemia

Criteria

Inclusion Criteria:

  • Homozygous Familial Hypercholesterolemia

Exclusion Criteria:

  • N/A
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01878604

Contacts
Contact: Shuiping Zhao, Doctor 8-731-85265806 zhaosp@medmail.com.cn

Locations
China, Hunan
Cardiology department of 2nd Xiangya Hospital Not yet recruiting
Changsha, Hunan, China, 410011
Contact: Minjie Lin    86-13467550637    bruce1148@163.com   
Sponsors and Collaborators
Central South University
Investigators
Principal Investigator: Shuiping Zhao, Doctor Central South University
  More Information

No publications provided

Responsible Party: Shuiping Zhao, Chief of Cardiology Department, 2nd Xiangya Hospital, Central South University
ClinicalTrials.gov 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:
Hypercholesterolemia
Hyperlipoproteinemia Type II
Dyslipidemias
Genetic Diseases, Inborn
Hyperlipidemias
Hyperlipoproteinemias
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on October 23, 2014