N/A
N=5
Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia
Bottom Line
View on ClinicalTrials.gov: NCT01878604 ↗Enrolled (actual)
5
Serious AEs
0.0%
Results posted
Feb 2017
Primary outcome: Primary: Number of LDLR Gene Mutations — 7 gene mutations
Study Design & Population
- Study type
- Observational
- Phase
- N/A
- Interventions
- Gene analysis (Genetic); Historical data of lipid-lowering drug administration (Other); Historical data of plasma lipids, xanthoma changes (Other)
- Age
- Pediatric, Adult, Older Adult
- Sex
- All
- Sponsor
- Central South University
- Primary completion
- Oct 2014
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of LDLR Gene Mutations |
7 | — |
| SECONDARY LDL-C Reduction Percentage |
48.16 | — |
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.
Eligibility Criteria
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.
Data sourced from ClinicalTrials.gov (NCT01878604). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.