Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT05638022 |
| Other study ID # |
UZIS 2021/1 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
July 1, 2021 |
| Est. completion date |
December 31, 2022 |
Study information
| Verified date |
June 2022 |
| Source |
Institute of Health Information and Statistics of the Czech Republic |
| Contact |
Pavel Nemec, PhD |
| Phone |
+420 777 844 327 |
| Email |
pavel.nemec[@]uzis.cz |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational [Patient Registry]
|
Clinical 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.
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.
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.
