Clinical trial NCT05638022: Pilot Project of Familial Hypercholesterolemia Screening in Newborns in the Czech Republic
Official title: Early Detection of Familial Hypercholesterolaemia
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Familial Hypercholesterolaemia
Keywords: Familial Hypercholesterolaemia
Newborns
Screening
Cholesterol
Molecular analysis
Lead sponsor: Institute of Health Information and Statistics of the Czech Republic
Sponsor class: OTHER_GOV
Collaborators: name: Centre of Cardiovascular and Transplantation Surgery, Czech Republic
name: The Central European Institute of Technology - Masaryk University
name: Motol University Hospital
name: Brno University Hospital
name: Municipal Hospital Ostrava
name: University Hospital Olomouc
name: University Hospital Pilsen
name: Masaryk Hospital in Ústí nad Labem, Regional Health Corporation
name: Regional Hospital Kolín, Hospital of the Central Bohemian Region
name: Havlíčkův Brod Hospital
name: Tomáš Baťa Regional Hospital in Zlín
name: Hospital of Hospitaller Brothers
name: Třebíč Hospital
First posted: 2022-12-06
Enrollment: 10000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

Eligibility criteria: 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).

Primary outcomes:
measure: Incidence of Familial hypercholesterolaemia in screened cohort of newborns
timeFrame: Until December 31, 2022
measure: Optimal methodological settings for Familial hypercholesterolaemia detection based on combination of both biochemical and molecular-genetic testing made from umbilical cord blood
timeFrame: Until February 28, 2022
Secondary outcomes:
measure: Up to 10,000 newborns enrolled in the project
timeFrame: Until December 31, 2022
Other outcomes:
Locations:
city: Brno
country: Czechia
facility: Brno University Hospital
city: Brno
country: Czechia
facility: Brothers of Charity Hospital
city: Havlíčkův Brod
country: Czechia
facility: Havlíčkův Brod Hospital
city: Kolín
country: Czechia
facility: Regional Hospital Kolín, Hospital of the Central Bohemian Region
city: Olomouc
country: Czechia
facility: University Hospital Olomouc
city: Ostrava
country: Czechia
facility: Municipal Hospital Ostrava
city: Pilsen
country: Czechia
facility: University Hospital Pilsen
city: Prague
country: Czechia
facility: Motol University Hospital
city: Třebíč
country: Czechia
facility: Třebíč Hospital
city: Zlín
country: Czechia
facility: Tomáš Baťa Region Hospital in Zlín
city: Ústí Nad Labem
country: Czechia
facility: Masaryk Hospital in Ústí nad Labem, Regional Health Corporation
Study officials:
affiliation: Institute of Health Information and Statistics of the Czech Republic
name: Ondřej Májek, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Centre of Cardiovascular and Transplantation Surgery, Czech Republic
name: Tomáš Freiberger, Prof.
role: STUDY_DIRECTOR
affiliation: General University Hospital, Prague
name: Michal Vrablík, Prof.
role: STUDY_CHAIR
References: