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Screening Children for Familial Hypercholesterolemia to Find It Early

Checks children aged 2 to 18 for inherited high cholesterol, with lifestyle assessment.

Plain-language title generated from the registry record
Registry title: Early Detection of Familial Hypercholesterolemia in Children

Key facts

Where
Reus, SpainSee the 2 sites

Could this be for you?

Answer for yourself. This is not a decision: only the study team can say whether you can take part.

  • Are you between 2 and 18 years old?

Source: NCT04370899, who can take part

Where in Spain

  • Hospital Universitari Sant JoanReus, SpainTaking people
  • Hospital Universitari Sant Joan de ReusReus, SpainTaking people

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?
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Trial details

Who runs it
Institut Investigacio Sanitaria Pere Virgili
Trial code
NCT04370899
Record updated
18 April 2025
Original description
Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second degree affected relatives.Read full original descriptionShow less

Early Detection of Familial Hypercholesterolemia in Children in Tarragona Province

Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second degree affected relatives.

Inclusion: Children between 2 and 18 years of age; LDL-C level above 135 mg/dL; Previously, the pediatrician will have discarded secondary causes (hypercholesterolaemia such as hypothyroidism, nephrotic syndrome, diabetes, renal insufficiency); After confirmation that one of the parents has a genetic mutation (Lipoxip/Liponext) or clinical diagnosis (DLCN ≥ 8), the child will be studied. The progenitor with hypercholesterolemia will be considered as an index case, in this way we will demonstrate the vertical transmission of the genetic disease.

Exclusion: The child population under 2 and over the age of 18 and children; Children with high cholesterol but by secondary causes.

ClinicalTrials.gov NCT04370899