Universal Familial Hypercholesterolemia Screening in Children

May 17, 2023 updated by: University of Ljubljana, Faculty of Medicine

Universal Screening for Familial Hypercholesterolemia in Children - a Practical Approach

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).

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Actual)

17000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
      • Hannover, Germany, 30173
        • Children's Hospital AUF DER BULT
  • Slovenia
      • Ljubljana, Slovenia, 1000
        • UMC - University Children's Hospital Ljubljana

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Slovenian cohort: A three-step approach of universal hypercholesterolemia screening is implemented: (1) total cholesterol (TC) measurement in all children at their primary care pediatricians at the programed visit prior to school entry; (2) if above the cut-off, re-testing and/or referral to the lipid clinic, where fasting LDL-cholesterol (LDL-C) measurement is performed; if again above the cut-off, it is followed by FH genetic testing; (3) if FH confirmed, screening of parent with higher TC/LDL-C level.

Lower Saxony cohort: (1) LDL-C measurement was offered to all children between 2-6 years during the compulsory routine check-ups and at any voluntary visits to the pediatrician's office; (2) if twice above the cut-off, referral to the lipid clinic, followed by FH genetic testing.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Children with hypercholesterolemia (Slovenia)
Children (aged 5 years) with total cholesterol measurement at primary care pediatricians at the programed visit prior to school entry.
Diagnostic test: Lipid levels measurement
Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.
Children with hypercholesterolemia (Lower Saxony, Germany)
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.
Diagnostic test: Lipid levels measurement
Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.
Children referred for FH genetic analysis (Slovenia and LS)
Children referred for familial hypercholesterolemia genetic analysis to the tertiary center, according to the screening algorithm.
Diagnostic test: Lipid levels measurement
Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.
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.
Parents and siblings of children with confirmed FH (Slovenia)
Parents or siblings of index cases with completed familial hypercholesterolemia genetic analysis, according to the screening algorithm.
Diagnostic test: Lipid levels measurement
Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months
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.
36 months
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.
36 months
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.
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Ljubljana, Faculty of Medicine

Collaborators

University Medical Centre Ljubljana
Kinderkrankenhaus auf der Bult

Investigators

  • Principal Investigator: Urh Groselj, MD, PhD, University of Ljubljana, Faculty of Medicine
  • Principal Investigator: Olga Kordonouri, MD, PhD, Kinderkrankenhaus auf der Bult

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2019

Primary Completion (Actual)

August 1, 2020

Study Completion (Actual)

December 31, 2021

Study Registration Dates

First Submitted

July 28, 2020

First Submitted That Met QC Criteria

August 7, 2020

First Posted (Actual)

August 11, 2020

Study Record Updates

Last Update Posted (Actual)

May 18, 2023

Last Update Submitted That Met QC Criteria

May 17, 2023

Last Verified

May 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FHUniScreenPeds

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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