Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

NCT01878604 | Completed Results

• 1 other identifier: MISP50469
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Homozygous Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

• Number of LDLR Gene Mutations

  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

  1 year

Secondary Outcomes (1)

• LDL-C Reduction Percentage

  pre-treatment and 6-13 years post treatment

Study Arms (1)

Homozygous Familial Hypercholesterolemia

Gene Analysis for Homozygous Familial Hypercholesterolemia cases

Genetic: Gene analysis; Other: Historical data of lipid-lowering drug administration; Other: Historical data of plasma lipids, xanthoma changes

Interventions

Gene analysis GENETIC

Gene analysis

Homozygous Familial Hypercholesterolemia

Historical data of lipid-lowering drug administration OTHER

Collecting historical data of lipid-lowering drug administration

Homozygous Familial Hypercholesterolemia

Historical data of plasma lipids, xanthoma changes OTHER

Collecting historical data of plasma lipids and xanthoma changes

Homozygous Familial Hypercholesterolemia

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Homozygous Familial Hypercholesterolemia

You may qualify if:

• 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

You may not qualify if:

• Inability of patient, or, if less than 18, a parent, to sign informed consent.

Sponsors & Collaborators

• Central South University: lead

Study Sites (1)

Cardiology department of 2nd Xiangya Hospital

Changsha, Hunan, 410011, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Homozygous Familial Hypercholesterolemia

Condition Hierarchy (Ancestors)

Hyperlipoproteinemia Type II; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Shuiping Zhao
• Organization: Central South University

zhaosp@medmail.com.cn

86-731-85295806

Study Officials

• Shuiping Zhao, Doctor

  Central South University

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief of Cardiology Department, 2nd Xiangya Hospital

Study Record Dates

• First Submitted: June 7, 2013
• First Posted: June 17, 2013
• Study Start: October 1, 2001
• Primary Completion: October 1, 2014
• Study Completion: January 1, 2015
• Last Updated: February 20, 2017
• Results First Posted: February 20, 2017

Record last verified: 2017-02

Locations

CN (1)