Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

Central South University

Status: Completed

Conditions: Homozygous Familial Hypercholesterolemia

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

Study type: Observational

Funder types: Other

Identifiers

NCT01878604

MISP50469

Details and patient eligibility

About

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.

Full 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.

Enrollment: 5 patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

5 participants in 1 patient group

Homozygous Familial Hypercholesterolemia

Description:

Gene Analysis for Homozygous Familial Hypercholesterolemia cases

Treatment:

Other: Historical data of plasma lipids, xanthoma changes

Genetic: Gene analysis

Other: Historical data of lipid-lowering drug administration