Familial HypercholesterolaemiaNCT07912281
Early Detection of Familial Hypercholesterolaemia in Pre-school Children ( CzeCH-IT)
An observational study of Familial Hypercholesterolaemia, run by Masaryk University at 62 sites in Czechia.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 3 to 7 yearsHealthy volunteers can take part
- Conditions the study is for
- Familial Hypercholesterolaemia
- How many people
- 6,276 participants
- Where
- 62 sitesCzechia
- Study dates
- 1 Sep 2024to Dec 2029
- How long will I take part?
- 3 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 7 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: paediatrician who cooperates with the project. Provided the parent agrees and signs an informed consent form.
Who may be able to join
- Preschool child aged 3-7 years undergoing a periodic preventive check-up
- Parent agrees and signs an informed consent form
Who cannot join
- The child has known FH
- One parent (mother/father) has been diagnosed with FH
Trial locations and contacts
62 sites in 1 country.
62 sites in 1 country
Czechia62 sites
Pediatric office
Beroun
Pediatric office
Blansko
Pediatric office
Borovany
Pediatric office
Brněnec
Pediatric office
Brno
Pediatric office
Bystřice pod Hostýnem
Pediatric office
Čelákovice
Pediatric office
Česká Kamenice
Pediatric office
Česká Třebová
Pediatric office
České Budějovice
Pediatric office
Český Brod
Pediatric office
Dobříš
Pediatric office
Dolní Němčí
Pediatric office
Fryštát
Pediatric office
Havířov
Pediatric office
Hořovice
Pediatric office
Hradec Králové
Pediatric office
Hrušovany nad Jevišovkou
Pediatric office
Jablonec nad Nisou
Pediatric office
Jičín
Pediatric office
Jilemnice
Pediatric office
Jindřichův Hradec
Pediatric office
Kamenice
Pediatric office
Kralovice
Pediatric office
Ledeč nad Sázavou
Pediatric office
Lednice
Pediatric office
Lešná
Pediatric office
Liberec
Pediatric office
Litoměřice
Pediatric office
Litomyšl
Pediatric office
Loděnice
Pediatric office
Mělník
Pediatric office
Meziboří
Pediatric office
Nové Město nad Metují
Pediatric office
Nové Strašecí
Pediatric office
Nový Bor
Pediatric office
Opava
Pediatric office
Ostrava
Pediatric office
Pilsen
Pediatric office
Poděbrady
Pediatric office
Polička
Pediatric office
Prague
Pediatric office
Přeštice
Pediatric office
Příbor
Pediatric office
Roudnice nad Labem
Pediatric office
Rožnov pod Radhoštěm
Pediatric office
Senice na Hané
Pediatric office
Skuteč
Pediatric office
Šlapanice
Pediatric office
Smečno
Pediatric office
Sternberk
Pediatric office
Svitavy
Pediatric office
Teplice
Pediatric office
Uherské Hradiště
Pediatric office
Úštěk
Pediatric office
Ústí nad Labem
Pediatric office
Valtice
Pediatric office
Velká Bystřice
Pediatric office
Velké Meziříčí
Pediatric office
Volyně
Pediatric office
Zdar
Pediatric office
Zlín
About this study
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.
Read the detailed description
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.
- Conditions
- Familial Hypercholesterolaemia
- Keywords
- Familiar Hypercholesterolemia, Pre-school children, Screening, Cholesterol, Molecular analysis
- Medical subject headings
- Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pre-school children | Pre-school children matching all inclusion \& exclusion criteria |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: until December 2027
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2026
- Study start1 Sep 2024
- Primary completionMar 2028 (estimated)
- Study completionDec 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial HypercholesterolaemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 6,276 participants (actual)
- Target duration
- 3 Months
Sponsor and investigators
- Lead sponsor
- Masaryk University
- Sponsor type
- University, hospital or other
- Collaborators
- Centre of Cardiovascular and Transplantation Surgery, Czech Republic, General University Hospital, Prague
- Responsible party
- Sponsor
- Investigators
- Tomáš Freiberger, professor, Study director, Centre of Cardiovascular and Transplantation Surgery, Czech RepublicMichal Vráblík, professor, Study chair, General University Hospital, Prague
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07912281
- Sponsor's protocol ID
- LFMU 2026/1
- Other IDs
- LX22NPO5104
- Status last verified
- Oct 2026
- First submitted
- 27 Oct 2026
- Last updated
- 5 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: IPD that underlies results in a publication
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Detection of Familial Hypercholesterolaemia in Pre-school Children ( CzeCH-IT)
- ClinicalTrials.gov ID
- NCT07912281
- Acronym / sponsor ID
- LFMU 2026/1
- Conditions
- Familial Hypercholesterolaemia
- Keywords
- Familiar Hypercholesterolemia, Pre-school children, Screening, Cholesterol, Molecular analysis
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 6,276 participants (actual)
- Lead sponsor
- Masaryk UniversityUniversity, hospital or other
- Collaborators
- Centre of Cardiovascular and Transplantation Surgery, Czech Republic, General University Hospital, Prague
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- Mar 2028 (estimated)
- Study completion
- Dec 2029 (estimated)
- First posted
- 3 Nov 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Months
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pre-school children | – | –Pre-school children matching all inclusion \& exclusion criteria |
Who may qualify
- Ages
- 3 to 7 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- paediatrician who cooperates with the project. Provided the parent agrees and signs an informed consent form.
Key inclusion criteria (2 listed)
- Preschool child aged 3-7 years undergoing a periodic preventive check-up
- Parent agrees and signs an informed consent form
Key exclusion criteria (2 listed)
- The child has known FH
- One parent (mother/father) has been diagnosed with FH
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Incidence of Familial hypercholesterolaemia in screened cohort of preschool children
Time frame: until December 2026
Number of preschool children with confirmed Familial hypercholesterolaemia in screened cohort based on combination of biochemical and molecular-genetic testing made from peripheral blood.
Optimal methodological settings for Familial hypercholesterolaemia detection based on combination of both biochemical and molecular-genetic testing made from peripheral blood
Time frame: until December 2027
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. IPD that underlies results in a publication
Related trials for Familial Hypercholesterolaemia
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Penn Family Screening for Familial Hypercholesterolemia (NHLBI R33) Trial 3
Familial Hypercholesterolemia
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An Observational Study to Evaluate Treatment Patterns in High, Very High and Extreme Cardiovascular Risk Patients With Hypercholesterolemia, Including Familial Hypercholesterolemia
Hypercholesterolaemia, Familial Hypercholesterolaemia
Active, not recruitingObservational study
Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients With Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia (HoFH), Major Adverse Cardiovascular Events (MACE)
Active, not recruitingObservational study
Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
Heterozygous Familial Hypercholesterolemia
Not yet recruitingPhase 1/2
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
Heterozygous Familial Hypercholesterolemia (HeFH)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tomáš Freiberger, professor study director
Centre of Cardiovascular and Transplantation Surgery, Czech Republic
Michal Vráblík, professor study chair
General University Hospital, Prague
62 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolaemia, run by Masaryk University at 62 sites in Czechia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 62 sites in Czechia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Familial hypercholesterolaemia in screened cohort of preschool children (time frame: until December 2026). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.