Universal Familial Hypercholesterolemia Screening in Children

University of Ljubljana, Faculty of Medicine

Status: Completed

Conditions: Polygenic Hypercholesterolaemia; Familial Hypercholesterolemia

Treatments: Diagnostic Test: Genetic analysis; Diagnostic Test: Lipid levels measurement

Study type: Observational

Funder types: Other

Identifiers

NCT04507984

FHUniScreenPeds

Details and patient eligibility

About

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).

Full 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.

Enrollment: 17,000 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Elevated total cholesterol (cohort 1) or LDL-cholesterol (cohort 2) at universal screening program in children.
• Completed FH genetic analysis (cohort 3).
• Parent or sibling of child with confirmed familial hypercholesterolemia (cohort 4).

Exclusion criteria

• Children with hypercholesterolemia not referred through the screening program.
• FH genetic analysis not completed.

Trial design

17,000 participants in 4 patient groups

Children with hypercholesterolemia (Slovenia)

Description:

Children (aged 5 years) with total cholesterol measurement at primary care pediatricians at the programed visit prior to school entry.

Treatment:

Diagnostic Test: Lipid levels measurement

Children with hypercholesterolemia (Lower Saxony, Germany)

Description:

Children (aged 2-6 years) with LDL-cholesterol measurement during the compulsory routine check-ups and at any voluntary visits to the primary care pediatricians.

Treatment:

Diagnostic Test: Lipid levels measurement

Children referred for FH genetic analysis (Slovenia and LS)

Description:

Children referred for familial hypercholesterolemia genetic analysis to the tertiary center, according to the screening algorithm.

Treatment:

Diagnostic Test: Lipid levels measurement

Diagnostic Test: Genetic analysis

Parents and siblings of children with confirmed FH (Slovenia)

Description:

Parents or siblings of index cases with completed familial hypercholesterolemia genetic analysis, according to the screening algorithm.

Treatment:

Diagnostic Test: Lipid levels measurement

Diagnostic Test: Genetic analysis