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Universal Familial Hypercholesterolemia Screening in Children

NCT04507984 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 17000

Last updated 2023-05-18

No results posted yet for this study

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).

Conditions

  • Familial Hypercholesterolemia
  • Polygenic Hypercholesterolaemia

Interventions

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.

Sponsors & Collaborators

  • University Medical Centre Ljubljana

    collaborator OTHER

  • Kinderkrankenhaus auf der Bult

    collaborator OTHER

  • University of Ljubljana, Faculty of Medicine

    lead OTHER

Principal Investigators

  • Urh Groselj, MD, PhD · University of Ljubljana, Faculty of Medicine

  • Olga Kordonouri, MD, PhD · Kinderkrankenhaus auf der Bult

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-01-01
Primary Completion
2020-08-01
Completion
2021-12-31

Countries

  • Germany
  • Slovenia

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04507984 on ClinicalTrials.gov