Early Detection of Familial Hypercholesterolemia in Children

Recruiting now

Conditions studied: Familial Hypercholesterolemia, Familial Hypercholesterolemia - Heterozygous, Familial Hypercholesterolemia - Homozygous

In brief

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.

Key facts

Study ID

NCT04370899

Run by

Institut Investigacio Sanitaria Pere Virgili

People needed

400

Starts

2013-03-14

Expected to finish

2030-07-01

Last updated by the study team

2025-04-18

Who can join

Age: 2 and older, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• Hospital Universitari Sant Joan de Reus — Reus, Tarragona, Spain (enrolling)
• Hospital Universitari Sant Joan — Reus, Tarragona, Spain (enrolling)

Full record on ClinicalTrials.gov

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