Pilot Project of Familial Hypercholesterolemia Screening in Newborns in the Czech Republic (CzeCH-IN)

November 25, 2022 updated by: Institute of Health Information and Statistics of the Czech Republic

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Anticipated)

10000

Contacts and Locations

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

Study Contact

Study Contact Backup

Study Locations

  • Czechia
      • Brno, Czechia
        • Recruiting
        • Brno University Hospital
        • Contact:
        • Principal Investigator:
          • Petr Janků, PhD
        • Sub-Investigator:
          • Miroslava Beňovská, PhD
      • Brno, Czechia
        • Recruiting
        • Brothers of Charity Hospital
        • Contact:
        • Principal Investigator:
          • Ivan Huvar, PhD
        • Sub-Investigator:
          • Tomáš Parák, PhD
      • Havlíčkův Brod, Czechia
        • Recruiting
        • Havlíčkův Brod Hospital
        • Contact:
        • Principal Investigator:
          • Pavel Antonín, MD
        • Sub-Investigator:
          • Marián Medňanský, MD
      • Kolín, Czechia
        • Recruiting
        • Regional Hospital Kolín, Hospital of the Central Bohemian Region
        • Contact:
        • Principal Investigator:
          • Aleš Toman, MD
        • Sub-Investigator:
          • Pavel Vondráček, MSc
      • Olomouc, Czechia
        • Recruiting
        • University Hospital Olomouc
        • Contact:
        • Principal Investigator:
          • Radovan Pilka, Prof.
        • Sub-Investigator:
          • Jitka Prošková, MD
      • Ostrava, Czechia
        • Recruiting
        • Municipal Hospital Ostrava
        • Contact:
        • Principal Investigator:
          • Marek Ožana, MD
        • Sub-Investigator:
          • Petr Kubáč, MD
      • Pilsen, Czechia
        • Recruiting
        • University Hospital Pilsen
        • Contact:
        • Principal Investigator:
          • Jaroslava Karbanová, PhD
        • Sub-Investigator:
          • Roman Cibulka, PhD
      • Prague, Czechia
        • Recruiting
        • Motol University Hospital
        • Contact:
        • Principal Investigator:
          • Tomáš Fait, Assoc. Prof.
        • Sub-Investigator:
          • Jana Čepová, PhD
      • Třebíč, Czechia
        • Recruiting
        • Třebíč Hospital
        • Contact:
        • Principal Investigator:
          • Michal Málek, MD
        • Sub-Investigator:
          • Jan Lacko, MD
      • Zlín, Czechia
        • Recruiting
        • Tomáš Baťa Region Hospital in Zlín
        • Contact:
        • Principal Investigator:
          • Marcela Henčlová, MD
        • Sub-Investigator:
          • Tomáš Šálek, PhD
      • Ústí Nad Labem, Czechia
        • Recruiting
        • Masaryk Hospital in Ústí nad Labem, Regional Health Corporation
        • Contact:
        • Principal Investigator:
          • Tomáš Binder, Assoc. Prof.
        • Sub-Investigator:
          • Jan Špička, MD

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

Genders Eligible for Study

All

Sampling Method

Probability Sample

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.

Description

Inclusion Criteria:

  1. The mother of the unborn child has a permanent residence in the Czech Republic.
  2. 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.

Exclusion Criteria:

  1. 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.
  2. 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.
  3. Either of the future parents (mother / father) is diagnosed with FH (or is aware that he or she would suffer from FH).

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: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Newborns
Newborns matching inclusion criteria
Diagnostic test: Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level 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.
Diagnostic test: DNA testing
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).
Other Names:
  • NGS analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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
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.
Until February 28, 2022

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Up to 10,000 newborns enrolled in the project
Time Frame: Until December 31, 2022
Up to 10,000 newborns enrolled in the project.
Until December 31, 2022

Collaborators and Investigators

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

Sponsor

Institute of Health Information and Statistics of the Czech Republic

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

Investigators

  • Principal Investigator: Ondřej Májek, PhD, Institute of Health Information and Statistics of the Czech Republic
  • Study Director: Tomáš Freiberger, Prof., Centre of Cardiovascular and Transplantation Surgery, Czech Republic
  • Study Chair: Michal Vrablík, Prof., General University Hospital in Prague

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)

July 1, 2021

Primary Completion (Anticipated)

December 1, 2022

Study Completion (Anticipated)

December 31, 2022

Study Registration Dates

First Submitted

November 25, 2022

First Submitted That Met QC Criteria

November 25, 2022

First Posted (Estimate)

December 6, 2022

Study Record Updates

Last Update Posted (Estimate)

December 6, 2022

Last Update Submitted That Met QC Criteria

November 25, 2022

Last Verified

June 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • UZIS 2021/1

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

product manufactured in and exported from the U.S.

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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