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Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01878604
First Posted: June 17, 2013
Last Update Posted: February 20, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Shuiping Zhao, Central South University
June 7, 2013
June 17, 2013
October 31, 2016
February 20, 2017
February 20, 2017
October 2001
October 2014   (Final data collection date for primary outcome measure)
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

Number of gene mutations (known gene and novel gene) related to HoFH in Chinese patients [ Time Frame: 1 year ]
Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes.
Complete list of historical versions of study NCT01878604 on ClinicalTrials.gov Archive Site
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".

LDL-C reduction at Year 1 in Chinese HoFH patients [ Time Frame: 1 year ]
serum LDL-C reduction at Year 1 with triple-combination therapy among Chinese HoFH patients
Not Provided
Not Provided
 
Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
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.

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.

Observational
Observational Model: Case-Only
Time Perspective: Retrospective
Not Provided
Retention:   Samples With DNA
Description:
Blood samples
Non-Probability Sample
Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia
  • 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
Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Interventions:
  • Genetic: Gene analysis
  • Other: Historical data of lipid-lowering drug administration
  • Other: Historical data of plasma lipids, xanthoma changes
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
5
January 2015
October 2014   (Final data collection date for primary outcome measure)

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.

Sexes Eligible for Study: All
Child, Adult, Senior
No
Contact information is only displayed when the study is recruiting subjects
China
 
 
NCT01878604
MISP50469
No
Not Provided
Not Provided
Shuiping Zhao, Central South University
Central South University
Not Provided
Principal Investigator: Shuiping Zhao, Doctor Central South University
Central South University
February 2017