Familial HypercholesterolaemiaCzeCH-INNCT05638022
Pilot Project of Familial Hypercholesterolemia Screening in Newborns in the Czech Republic
An observational study of Familial Hypercholesterolaemia, run by Institute of Health Information and Statistics of the Czech Republic at 11 sites in Czechia.
Trial summary
The project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease Familial hypercholesterolaemia (FH) in newborns in the Czech Republic. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Familial Hypercholesterolaemia
- What is being tested?
- Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level test and DNA testing
- How many people
- 10,000 participants
- Where
- 11 sitesCzechia
- Study dates
- 1 Jul 2021to 31 Dec 2022
- How long will I take part?
- 16 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Any pregnant woman in the Czech Republic (matching inclusion criteria) who will give a birth in one of the 12 perinatological centres participating in the project.
Who may be able to join
- The mother of the unborn child has a permanent residence in the Czech Republic.
- The mother of the unborn child is able to understand the information provided in the Informed Consent and in the Consent to the Processing of Personal Data.
Who cannot join
- The unborn child suffer from a severe developmental defect. Severe developmental defects are considered to be: severe CNS defect (hydrocephalus, holoprosencephaly), severe heart defect requiring surgical correction, congenital pulmonary airway malformation (CPAM), cystic renal degeneration, GIT obstruction, cleft palate and neural tube defects.
- The unborn child suffer from growth retardation (premature babies can be included in the project). Growth retardation is considered to be a growth restriction with a weight estimate below the 5th percentile.
- Either of the future parents (mother / father) is diagnosed with FH (or is aware that he or she would suffer from FH).
Trial locations and contacts
11 sites in 1 country.
Karel Hejduk, Dr. contact
11 sites in 1 country
Czechia11 sites, 11 recruiting
- Recruiting
Brno University Hospital
Brno
Alžběta Nagyová, nagyova.alzbeta@fnbrno.cz
Petr Janků, PhD
- Recruiting
Brothers of Charity Hospital
Brno
Ivan Huvar, PhD, ivan.huvar@nmbbrno.cz
Ivan Huvar, PhD
- Recruiting
Havlíčkův Brod Hospital
Havlíčkův Brod
Erik Lajtman, MD, PhD, erik.lajtman@onhb.cz
Pavel Antonín, MD
- Recruiting
Regional Hospital Kolín, Hospital of the Central Bohemian Region
Kolín
Markéta Pokorná, MD, pokornamarketa@centrum.cz
Aleš Toman, MD
- Recruiting
University Hospital Olomouc
Olomouc
Renata Černohouzová, MSc, renata.cernohouzova@fnol.cz
Radovan Pilka, Prof.
- Recruiting
Municipal Hospital Ostrava
Ostrava
Jana Kubinová, MD, jana.kubinova@mnof.cz
Marek Ožana, MD
- Recruiting
University Hospital Pilsen
Pilsen
Jaroslava Karbanová, PhD, karbanovaj@fnplzen.cz
Jaroslava Karbanová, PhD
- Recruiting
Motol University Hospital
Prague
Tomáš Fait, Assoc. Prof., tomas.fait@fnmotol.cz
Tomáš Fait, Assoc. Prof.
- Recruiting
Třebíč Hospital
Třebíč
Michal Málek, MD, mmalek@nem-tr.cz
Michal Málek, MD
- Recruiting
Masaryk Hospital in Ústí nad Labem, Regional Health Corporation
Ústí nad Labem
Hana Panznerová, hana.panznerova@kzcr.eu
Tomáš Binder, Assoc. Prof.
- Recruiting
Tomáš Baťa Region Hospital in Zlín
Zlín
Marcela Henčlová, MD, marcelahenclova@seznam.cz
Marcela Henčlová, MD
About this study
Official title: Early Detection of Familial Hypercholesterolaemia
The project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease Familial hypercholesterolaemia (FH) in newborns in the Czech Republic.
The main goal of the project is to methodically prepare, implement and evaluate a pilot project that will verify the suitability of the proposed procedure of early detection of Familial hypercholesterolaemia in such a way as to ensure the maximum positive impact on the health of the population and high cost-effectiveness of the whole process.
Read the detailed description
The project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease Familial hypercholesterolaemia in newborns taking place in 12 selected perinatological centers in the Czech Republic. The main goal of the project is to methodically prepare, implement and evaluate a pilot project that will verify the suitability of the proposed procedure of early detection of Familial hypercholesterolaemia in such a way as to ensure the maximum positive impact on the health of the population and high cost-effectiveness of the whole process.
The project will include 10,000 newborns, in whom umbilical cord blood will be taken, from which the level of blood lipids - LDL cholesterol and total cholesterol - will be determined in a biochemical laboratory. In 1,500 newborns with the highest level of LDL cholesterol in the whole examined cohort, a molecular genetic examination of causal DNA mutations responsible for the FH development will be performed. The final evaluation of the FH diagnosis will be performed by specialized doctor, who in case of confirmed/suspected FH diagnosis will contact the child's mother or the pediatrician who has taken the child into care. According to epidemiological data, it can be assumed that the project will newly reveal approximately 40-50 children (families) with FH disease. This approach will allow FH-positive newborns to initiate adequate regimen measures from 2 years of age later followed by pharmacological intervention from 8 years of age, which will dramatically reduce their risk of premature death and non-fatal cardiovascular ischemic events at their young adult age. In addition, according to the valid recommendations for the diagnosis and treatment of this disease in the Czech Republic, it can be assumed that finding FH-positive child will also lead to cascade examination of his/her relatives (parents, grandparents, siblings and possibly also siblings of the affected parent), which, due to the type of FH inheritance, will reveal at least one another FH-positive relative in the affected family. It should be emphasized that the parents of newly diagnosed child are usually at the age when the risk of their untimely death or premature non-fatal myocardial infarction is very high (compared to common population). In adult relatives of the sick child, in whom FH disease will be subsequently diagnosed, the necessary pharmacological treatment will be initiated immediately.
As a result, the pilot project should provide data that will help the relevant authorities to decide on the possible extension of the existing neonatal screening in the Czech Republic to Familial hypercholesterolaemia testing. The project will also raise awareness of Familial hypercholesterolaemia in society.
The project is supported by the European Social Fund (Operational Program Employment) and the state budget of the Czech Republic and is registered by the Ministry of Labour and Social Affairs of the Czech Republic under ID: CZ.03.2.63/0.0/0.0/15_039/0009642.
- Conditions
- Familial Hypercholesterolaemia
- Being tested
- Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level test, DNA testing
- Keywords
- Familial Hypercholesterolaemia, Newborns, 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.
Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level testDiagnostic test
Total cholesterol (TC) level testing and direct Low density lipoprotein cholesterol (LDL-C) level testing will be performed in all 10,000 newborns enrolled in the project.
DNA testingDiagnostic test
Also called NGS analysis
DNA testing (NGS analysis of DNA mutations in 9 genes: LDLR, APOB, APOE, PCSK9, LDLRAP1, STAP1, ABCG5, ABCG8, LIPA and polygenic markers) will be performed in the subcohort of 1,500 newborns with highest level of Low density lipoprotein cholesterol (LDL-C).
| Study group | Role | What they receive |
|---|---|---|
| Newborns | Newborns matching inclusion criteria Receives: Diagnostic Test: Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level test; Diagnostic Test: DNA testing |
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 newborns
Number of newborns with confirmed Familial hypercholesterolaemia in screened cohort based on combination of biochemical and molecular-genetic testing made from umbilical cord blood.
Measured: Until December 31, 2022
Optimal methodological settings for Familial hypercholesterolaemia detection based on combination of both biochemical and molecular-genetic testing made from umbilical cord blood
Optimal settings for Familial hypercholesterolaemia detection from umbilical cord blood: LDL-cholesterol/total cholesterol cut-off values in combination with presence/absence of specific gene mutations/variants.
Measured: Until February 28, 2022
Secondary outcomes (1)
Up to 10,000 newborns enrolled in the project
Up to 10,000 newborns enrolled in the project.
Measured: Until December 31, 2022
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Dec 2022
- Study start1 Jul 2021
- Primary completion1 Dec 2022 (estimated)
- Study completion31 Dec 2022 (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
- 10,000 participants (estimated)
- Target duration
- 16 Months
Sponsor and investigators
- Lead sponsor
- Institute of Health Information and Statistics of the Czech Republic
- Sponsor type
- Other government
- Collaborators
- Centre of Cardiovascular and Transplantation Surgery, Czech Republic, The Central European Institute of Technology - Masaryk University, Motol University Hospital, Brno University Hospital, Municipal Hospital Ostrava, University Hospital Olomouc, University Hospital Pilsen, Masaryk Hospital in Ústí nad Labem, Regional Health Corporation, Regional Hospital Kolín, Hospital of the Central Bohemian Region, Havlíčkův Brod Hospital, Tomáš Baťa Regional Hospital in Zlín, Hospital of Hospitaller Brothers, Třebíč Hospital
- Responsible party
- Sponsor
- Investigators
- Ondřej Májek, PhD, Principal investigator, Institute of Health Information and Statistics of the Czech RepublicTomáš Freiberger, Prof., Study director, Centre of Cardiovascular and Transplantation Surgery, Czech RepublicMichal Vrablík, Prof., Study chair, General University Hospital, Prague
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05638022
- Sponsor's protocol ID
- UZIS 2021/1
- Acronym
- CzeCH-IN
- Status last verified
- Jun 2022
- First submitted
- 25 Nov 2022
- Last updated
- 6 Dec 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Dec 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Detection of Familial Hypercholesterolaemia
- ClinicalTrials.gov ID
- NCT05638022
- Acronym / sponsor ID
- CzeCH-IN / UZIS 2021/1
- Conditions
- Familial Hypercholesterolaemia
- Keywords
- Familial Hypercholesterolaemia, Newborns, Screening, Cholesterol, Molecular analysis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10,000 participants (estimated)
- Lead sponsor
- Institute of Health Information and Statistics of the Czech RepublicOther government
- Collaborators
- Centre of Cardiovascular and Transplantation Surgery, Czech Republic, The Central European Institute of Technology - Masaryk University, Motol University Hospital, Brno University Hospital, Municipal Hospital Ostrava, University Hospital Olomouc, University Hospital Pilsen, Masaryk Hospital in Ústí nad Labem, Regional Health Corporation, Regional Hospital Kolín, Hospital of the Central Bohemian Region, Havlíčkův Brod Hospital, Tomáš Baťa Regional Hospital in Zlín, Hospital of Hospitaller Brothers, Třebíč Hospital
- Study start
- 1 Jul 2021 (actual)
- Primary completion
- 1 Dec 2022 (estimated)
- Study completion
- 31 Dec 2022 (estimated)
- First posted
- 6 Dec 2022 (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 pilot project of screening for the disease Familial hypercholesterolaemia (FH) in newborns in the Czech Republic.
The main goal of the project is to methodically prepare, implement and evaluate a pilot project that will verify the suitability of the proposed procedure of early detection of Familial hypercholesterolaemia in such a way as to ensure the maximum positive impact on the health of the population and high cost-effectiveness of the whole process.
Detailed description
The project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease Familial hypercholesterolaemia in newborns taking place in 12 selected perinatological centers in the Czech Republic. The main goal of the project is to methodically prepare, implement and evaluate a pilot project that will verify the suitability of the proposed procedure of early detection of Familial hypercholesterolaemia in such a way as to ensure the maximum positive impact on the health of the population and high cost-effectiveness of the whole process.
The project will include 10,000 newborns, in whom umbilical cord blood will be taken, from which the level of blood lipids - LDL cholesterol and total cholesterol - will be determined in a biochemical laboratory. In 1,500 newborns with the highest level of LDL cholesterol in the whole examined cohort, a molecular genetic examination of causal DNA mutations responsible for the FH development will be performed. The final evaluation of the FH diagnosis will be performed by specialized doctor, who in case of confirmed/suspected FH diagnosis will contact the child's mother or the pediatrician who has taken the child into care. According to epidemiological data, it can be assumed that the project will newly reveal approximately 40-50 children (families) with FH disease. This approach will allow FH-positive newborns to initiate adequate regimen measures from 2 years of age later followed by pharmacological intervention from 8 years of age, which will dramatically reduce their risk of premature death and non-fatal cardiovascular ischemic events at their young adult age. In addition, according to the valid recommendations for the diagnosis and treatment of this disease in the Czech Republic, it can be assumed that finding FH-positive child will also lead to cascade examination of his/her relatives (parents, grandparents, siblings and possibly also siblings of the affected parent), which, due to the type of FH inheritance, will reveal at least one another FH-positive relative in the affected family. It should be emphasized that the parents of newly diagnosed child are usually at the age when the risk of their untimely death or premature non-fatal myocardial infarction is very high (compared to common population). In adult relatives of the sick child, in whom FH disease will be subsequently diagnosed, the necessary pharmacological treatment will be initiated immediately.
As a result, the pilot project should provide data that will help the relevant authorities to decide on the possible extension of the existing neonatal screening in the Czech Republic to Familial hypercholesterolaemia testing. The project will also raise awareness of Familial hypercholesterolaemia in society.
The project is supported by the European Social Fund (Operational Program Employment) and the state budget of the Czech Republic and is registered by the Ministry of Labour and Social Affairs of the Czech Republic under ID: CZ.03.2.63/0.0/0.0/15_039/0009642.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 16 Months
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Newborns | – | Diagnostic Test: Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level test, Diagnostic Test: DNA testingNewborns matching inclusion criteria |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any pregnant woman in the Czech Republic (matching inclusion criteria) who will give a birth in one of the 12 perinatological centres participating in the project.
Key inclusion criteria (2 listed)
- The mother of the unborn child has a permanent residence in the Czech Republic.
- The mother of the unborn child is able to understand the information provided in the Informed Consent and in the Consent to the Processing of Personal Data.
Key exclusion criteria (3 listed)
- The unborn child suffer from a severe developmental defect. Severe developmental defects are considered to be: severe CNS defect (hydrocephalus, holoprosencephaly), severe heart defect requiring surgical correction, congenital pulmonary airway malformation (CPAM), cystic renal degeneration, GIT obstruction, cleft palate and neural tube defects.
- The unborn child suffer from growth retardation (premature babies can be included in the project). Growth retardation is considered to be a growth restriction with a weight estimate below the 5th percentile.
- Either of the future parents (mother / father) is diagnosed with FH (or is aware that he or she would suffer from FH).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level testTotal cholesterol (TC) level testing and direct Low density lipoprotein cholesterol (LDL-C) level testing will be performed in all 10,000 newborns enrolled in the project. | Diagnostic test | Newborns |
| DNA testingAlso: NGS analysisDNA testing (NGS analysis of DNA mutations in 9 genes: LDLR, APOB, APOE, PCSK9, LDLRAP1, STAP1, ABCG5, ABCG8, LIPA and polygenic markers) will be performed in the subcohort of 1,500 newborns with highest level of Low density lipoprotein cholesterol (LDL-C). | Diagnostic test | Newborns |
Primary outcome
Incidence of Familial hypercholesterolaemia in screened cohort of newborns
Time frame: Until December 31, 2022
Number of newborns with confirmed Familial hypercholesterolaemia in screened cohort based on combination of biochemical and molecular-genetic testing made from umbilical cord blood.
Optimal methodological settings for Familial hypercholesterolaemia detection based on combination of both biochemical and molecular-genetic testing made from umbilical cord blood
Time frame: Until February 28, 2022
Optimal settings for Familial hypercholesterolaemia detection from umbilical cord blood: LDL-cholesterol/total cholesterol cut-off values in combination with presence/absence of specific gene mutations/variants.
1 secondary outcome
Up to 10,000 newborns enrolled in the project
Time frame: Until December 31, 2022
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Dec 2022.
- Individual participant dataSharing planned: No
Related trials for Familial Hypercholesterolaemia
Active, not recruitingObservational study
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Penn Family Screening for Familial Hypercholesterolemia (NHLBI R33) Trial 3
Familial Hypercholesterolemia
Not yet recruitingObservational study
An Observational Study to Evaluate Treatment Patterns in High, Very High and Extreme Cardiovascular Risk Patients With Hypercholesterolemia, Including Familial Hypercholesterolemia
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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
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.
Karel Hejduk, Dr. contact
Ondřej Májek, PhD principal investigator
Institute of Health Information and Statistics of the Czech Republic
Tomáš Freiberger, Prof. study director
Centre of Cardiovascular and Transplantation Surgery, Czech Republic
Michal Vrablík, Prof. study chair
General University Hospital, Prague
11 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 Institute of Health Information and Statistics of the Czech Republic at 11 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 3 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: status not confirmed, as of the sponsor's last update on 6 Dec 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Pavel Němec, PhD (+420 777 844 327, pavel.nemec@uzis.cz), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Familial hypercholesterolaemia in screened cohort of newborns (time frame: Until December 31, 2022). 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 6 Dec 2022.