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

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

Interventions

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).

Sponsors & Collaborators

• Centre of Cardiovascular and Transplantation Surgery, Czech Republic

  collaborator OTHER

• The Central European Institute of Technology - Masaryk University

  collaborator UNKNOWN

• Motol University Hospital

  collaborator OTHER

• Brno University Hospital

  collaborator OTHER

• Municipal Hospital Ostrava

  collaborator OTHER

• University Hospital Olomouc

  collaborator OTHER

• University Hospital Pilsen

  collaborator OTHER

• Masaryk Hospital in Ústí nad Labem, Regional Health Corporation

  collaborator UNKNOWN

• Regional Hospital Kolín, Hospital of the Central Bohemian Region

  collaborator UNKNOWN

• Havlíčkův Brod Hospital

  collaborator UNKNOWN

• Tomáš Baťa Regional Hospital in Zlín

  collaborator UNKNOWN

• Hospital of Hospitaller Brothers

  collaborator UNKNOWN

• Třebíč Hospital

  collaborator UNKNOWN

• Institute of Health Information and Statistics of the Czech Republic

  lead OTHER_GOV

Principal Investigators

• Ondřej Májek, PhD · Institute of Health Information and Statistics of the Czech Republic

• Tomáš Freiberger, Prof. · Centre of Cardiovascular and Transplantation Surgery, Czech Republic

• Michal Vrablík, Prof. · General University Hospital, Prague

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-07-01

Primary Completion

2022-12-01

Completion

2022-12-31

Countries

• Czechia

Study Locations