An observational study in Familial Hypercholesterolaemia, sponsored by Masaryk University. Active, not recruiting at 62 sites in Czechia. Open to participants aged 3 Years to 7 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-05.
Sponsored by Masaryk University · Observational
The project is a national, prospective, multicenter, non-interventional project of screening for the disease Familial hypercholesterolaemia (FH) in pre-school children in the Czech Republic.
This is a national, prospective, multicentre, non-interventional pilot project designed to evaluate the screening of familial hypercholesterolaemia (FH) in preschool children. The project will be conducted in 100 selected paediatric outpatient clinics across the Czech Republic.
The primary objective is to systematically prepare, implement, and evaluate a pilot screening programme to assess the feasibility and suitability of early FH detection. The project aims to identify an approach that maximises the potential health benefits for children while ensuring population-level effectiveness, efficient use of healthcare resources, and high cost-effectiveness.
Up to 10,000 children will be enrolled in the project. Capillary blood samples will be collected to measure LDL cholesterol and total cholesterol using the cobas® b 101 system (Roche). The 1,500 children with the highest LDL cholesterol levels within the entire cohort will undergo molecular genetic testing to identify pathogenic DNA variants associated with FH. The final diagnostic assessment will be performed by a specialist physician. Where FH is confirmed or suspected, the specialist will contact the child's responsible paediatrician to facilitate appropriate follow-up and management.
Based on available epidemiological data, the project is expected to identify approximately 40-50 previously undiagnosed children and their families with FH. Early identification will enable timely implementation of lifestyle modifications and, where clinically indicated, pharmacological treatment from the age of eight years. Early intervention is expected to reduce the long-term risk of premature cardiovascular disease, including premature death and non-fatal ischaemic cardiovascular events in young adulthood.
Furthermore, in accordance with current Czech recommendations for the diagnosis and treatment of FH, identifying an affected child is expected to facilitate cascade screening within the family. Given the autosomal dominant inheritance of FH, systematic examination of the child's relatives-including parents, grandparents, siblings, and potentially the siblings of the affected parent-is likely to identify additional affected family members. At least one additional relative with FH may be identified in each affected family, although the actual yield will depend on family structure, participation, and diagnostic findings.
Particular importance should be attached to identifying affected parents, who may already face a substantially increased risk of premature cardiovascular events compared with the general population. For adult relatives newly diagnosed with FH, timely initiation of appropriate pharmacological treatment may help reduce this risk.
The project is expected to generate evidence to support healthcare authorities in assessing the diagnostic yield, feasibility, and cost-effectiveness of different strategies for implementing nationwide childhood FH screening in the Czech Republic. In addition, it will contribute to raising public and professional awareness of FH, its hereditary nature, and the importance of early diagnosis and intervention.
249 studies on the registry are indexed under Hyperlipoproteinemia Type II; 56 are open to participants now.
This study's enrollment of 6,276 is above the median of 770 across 64 observational studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →Masaryk University is the lead sponsor of 47 studies on the registry; 20 are open to participants now.
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The criteria were revised on the registry on Nov 5, 2026. See what changed
paediatrician who cooperates with the project. Provided the parent agrees and signs an informed consent form.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Pre-school children matching all inclusion \& exclusion criteria
Incidence of Familial hypercholesterolaemia in screened cohort of preschool children
Number of preschool children with confirmed Familial hypercholesterolaemia in screened cohort based on combination of biochemical and molecular-genetic testing made from peripheral blood.
Time frame: until December 2026
Optimal methodological settings for Familial hypercholesterolaemia detection based on combination of both biochemical and molecular-genetic testing made from peripheral blood
Optimal settings for Familial hypercholesterolaemia detection from peripheral blood: LDL-cholesterol/total cholesterol cut-off values in combination with presence/absence of specific gene mutations/variants.
Time frame: until December 2027
Plan to share: Yes — IPD that underlies results in a publication
Supporting information: Study protocol
Started Sep 2024 (actual). Primary completion is estimated for Mar 2028, 42 months after the start.
Of 32 observational studies under Hyperlipoproteinemia Type II, half reached primary completion within 76 months of starting (the median), counting those still running; a quarter within 23. This study's planned 42 months is below that.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is active, not recruiting, as verified in Oct 2026. You cannot join it, but the record below documents what was studied.
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Hyperlipoproteinemia Type II →
Masaryk University