NCT04507984

Universal Familial Hypercholesterolemia Screening in Children

Universal Screening for Familial Hypercholesterolemia in Children - a Practical Approach

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 17,000 (actual)
• Sponsor: University of Ljubljana, Faculty of Medicine · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

30 million individuals globally with undiagnosed familial hypercholesterolemia (FH) are at a substantial cardiovascular disease (CVD) risk, which could be normalized by early diagnosis and treatment. Effective screening strategies are urgently needed, but the data on universal FH screening (uFHs) is scarce. The investigators aim to assess the overall performance of the uFHs program in Slovenia and to compare the common elements to the pilot uFHs program in Lower Saxony (LS; Germany).

Detailed description

The study will include pediatric patients (or their siblings and parents in Slovenian cohort) undergoing the universal hypercholesterolemia screening; those with elevated cholesterol at universal cholesterol screening at primary care level are referred to the lipidology specialist at the UMC Ljubljana (Slovenia) or Kinderkrankenhaus auf der Bult (Lower Saxony, Germany). For those with elevated cholesterol levels, the familial hypercholesterolemia genetic diagnostics is done centrally in UMC Ljubljana. Only those will be included from whom a signed informed consent by themselves or by their parents/guardians will be obtained prior to the genetic diagnosis of familial hypercholesterolemia.

Conditions

• Familial Hypercholesterolemia
• Polygenic Hypercholesterolaemia

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Genetic analysis	After obtaining written consent from patients, DNA is isolated, and genetic analysis of the know familial hypercholesterolemia disease-causing genes (LDLR, APOB, PCSK9) is performed.
DIAGNOSTIC_TEST	Lipid levels measurement	Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.

Timeline

• Start date: 2019-01-01
• Primary completion: 2020-08-01
• Completion: 2021-12-31
• First posted: 2020-08-11
• Last updated: 2023-05-18

Locations

2 sites across 2 countries: Germany, Slovenia