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Completed

NCT Number: NCT04507984

Universal Familial Hypercholesterolemia Screening in Children

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).

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Key information

Conditions

Familial Hypercholesterolemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Polygenic Hypercholesterolaemia

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital AUF DER BULT, Hanover, Germany

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Genetic analysis

Diagnostic Test

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.

Lipid levels measurement

Diagnostic Test

Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.

Primary outcomes

  1. Efficacy of universal familial hypercholesterolemia screening

    Time frame: 36 months

    The investigators aim to assess the overall performance (number of cases per 1000/screened; rate of implementation) of the universal screening for familial hypercholesterolemia.

Secondary outcomes

  1. Genotype-phenotype correlations in children with familial hypercholesterolemia

    Time frame: 36 months

    The investigators will assess the phenotypic characteristics in relation to genotypes; specificity and sensitivity of genetic analyses will be determined.

  2. Prevalences of heterozygous and homozygous familial hypercholesterolemia

    Time frame: 36 months

    Number of genetically confirmed cases are compared to the number of live-born children in same period.

  3. Cost-effectiveness analysis of universal screening for familial hypercholesterolemia

    Time frame: 36 months

    The costs per new genetically confirmed case are estimated considering the costs for all the three steps of the screening algorithm.

  4. Comparison of universal and pilot familial hypercholesterolemia screening

    Time frame: 36 months

    The investigators aim to compare the common elements of the pilot universal hypercholesterolemia program in Lower Saxony (LS; Germany) to the Slovenian national universal familial hypercholesterolemia screening.

Sponsors and collaborators

Lead sponsor

University of Ljubljana, Faculty of Medicine

Other

Collaborators

  • Kinderkrankenhaus auf der Bult
  • University Medical Centre Ljubljana

Registry information

Official study title

Universal Screening for Familial Hypercholesterolemia in Children - a Practical Approach

Important dates

Study start
2019
Primary completion
2020
Study completion
2021
First posted
Aug 11, 2020
Registry last updated
May 18, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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