Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

This study is not yet open for participant recruitment.
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

June 7, 2013
June 13, 2013
July 2013
April 2015   (final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT01878604 on ClinicalTrials.gov Archive Site
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
Same as current
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
Not Provided
Not Provided
Retention:   Samples With DNA
Description:

Blood samples

Non-Probability Sample

Homozygous Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia
Other: Gene analysis
Gene analysis
Homozygous Familial Hypercholesterolemia
Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Intervention: Other: Gene analysis
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Not yet recruiting
25
April 2015
April 2015   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Homozygous Familial Hypercholesterolemia

Exclusion Criteria:

  • N/A
Both
Not Provided
No
Contact: Shuiping Zhao, Doctor 8-731-85265806 zhaosp@medmail.com.cn
China
 
NCT01878604
MISP50469
No
Shuiping Zhao, Central South University
Central South University
Not Provided
Principal Investigator: Shuiping Zhao, Doctor Central South University
Central South University
June 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP