Child-Parent Familial Hypercholesterolemia Screening

Condition(s) studied

Investigational drug(s) / intervention(s)

no interventions: it is a observational study, do not have interventions.

Study summary

Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease. The investigators assessed the efficacy and feasibility of such screening in primary care practice.

key scientific questions:

1. The 95th and 99th percentile of finger blood TC in children of 2 years old.
2. Mutations that contribute to high TC status ( serum TC \>99th percentiles) compared with international FH48 panel for FH genetic screening.

Eligibility

Primary outcome measure(s)

• The affected status of Familial Hypercholesterolemia — At enrollment
  heterozygote or homozygote carriers of established FH mutations in LDLR, PSCK9 and APOB gene, including mutations included in the FH48 and new ones identified in Chinese children

Trial sites (6)

More Children's Hospital of Fudan University trials in China

Other trials for the same condition