Pilot Project of Familial Hypercholesterolemia Screening in Newborns in the Czech Republic

NCT05638022 | Unknown

• 1 other identifier: UZIS 2021/1
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 11

Brief 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. 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.

Conditions

Familial Hypercholesterolaemia

Keywords

Familial Hypercholesterolaemia; Newborns; Screening; Cholesterol; Molecular analysis

Outcome Measures

Primary Outcomes (2)

• 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.

  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.

  Until February 28, 2022

Secondary Outcomes (1)

• Up to 10,000 newborns enrolled in the project

  Until December 31, 2022

Study Arms (1)

Newborns

Newborns matching inclusion criteria

Diagnostic Test: Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level test; Diagnostic Test: DNA testing

Interventions

Total cholesterol (TC) level test and direct Low density lipoprotein cholesterol (LDL-C) level test DIAGNOSTIC_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.

Newborns

DNA testing DIAGNOSTIC_TEST

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).

Also known as: NGS analysis

Newborns

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• Institute of Health Information and Statistics of the Czech Republic: lead
• Centre of Cardiovascular and Transplantation Surgery, Czech Republic: collaborator
• The Central European Institute of Technology - Masaryk University: collaborator
• Motol University Hospital: collaborator
• Brno University Hospital: collaborator
• Municipal Hospital Ostrava: collaborator
• University Hospital Olomouc: collaborator
• University Hospital Pilsen: collaborator
• Masaryk Hospital in Ústí nad Labem, Regional Health Corporation: collaborator
• Regional Hospital Kolín, Hospital of the Central Bohemian Region: collaborator
• Havlíčkův Brod Hospital: collaborator
• Tomáš Baťa Regional Hospital in Zlín: collaborator
• Hospital of Hospitaller Brothers: collaborator
• Třebíč Hospital: collaborator

Study Sites (11)

Brno University Hospital

Brno, Czechia

RECRUITING

Brothers of Charity Hospital

Brno, Czechia

RECRUITING

Havlíčkův Brod Hospital

Havlíčkův Brod, Czechia

RECRUITING

Regional Hospital Kolín, Hospital of the Central Bohemian Region

Kolín, Czechia

RECRUITING

University Hospital Olomouc

Olomouc, Czechia

RECRUITING

Municipal Hospital Ostrava

Ostrava, Czechia

RECRUITING

University Hospital Pilsen

Pilsen, Czechia

RECRUITING

Motol University Hospital

Prague, Czechia

RECRUITING

Třebíč Hospital

Třebíč, Czechia

RECRUITING

Masaryk Hospital in Ústí nad Labem, Regional Health Corporation

Ústí nad Labem, Czechia

RECRUITING

Tomáš Baťa Region Hospital in Zlín

Zlín, Czechia

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Umbilical Cord blood

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Ondřej Májek, PhD

  Institute of Health Information and Statistics of the Czech Republic

  PRINCIPAL INVESTIGATOR

• Tomáš Freiberger, Prof.

  Centre of Cardiovascular and Transplantation Surgery, Czech Republic

  STUDY DIRECTOR

• Michal Vrablík, Prof.

  General University Hospital, Prague

  STUDY CHAIR

Central Study Contacts

Pavel Němec, PhD

CONTACT

+420 777 844 327; pavel.nemec@uzis.cz

Karel Hejduk, Dr.

CONTACT

karel.hejduk@uzis.cz

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 16 Months
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 25, 2022
• First Posted: December 6, 2022
• Study Start: July 1, 2021
• Primary Completion: December 1, 2022
• Study Completion: December 31, 2022
• Last Updated: December 6, 2022

Record last verified: 2022-06

Data Sharing

• IPD Sharing: Will not share

Locations

CZ (11)