Detecting Familial Hypercholesterolemia in Children

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to identify children with Heterozygous Familial Hypercholesterolemia (HeFH), a genetic disorder that leads to high cholesterol levels and increased cardiovascular risk. By assessing lifestyle factors and conducting genetic testing, the study seeks to initiate early therapeutic interventions to prevent atherosclerosis and related health issues in adulthood. The research focuses on children aged 2 to 18 years who have elevated LDL cholesterol levels and a family history of the condition. The goal is to improve diagnosis rates, which are currently low, and to identify affected relatives.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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 Criteria:

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

Where it's running

• Hospital Universitari Sant Joan de Reus
  Reus, Tarragona, Spain Recruiting
• Hospital Universitari Sant Joan
  Reus, Tarragona, Spain Recruiting

Study contacts

• Study coordinator: Núria Plana, MD, PhD
• Email: nplana@grupsagessa.cat
• Phone: +34977300310

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• ORIGIN-FH: Newborn screening to detect familial high cholesterol

  This project will test a genetic cheek swab of parents plus blood screening of newborns to find familial high cholesterol in babies born to parents with familial hypercholesterolemia.

  Recruiting University of Wisconsin, Madison · Madison, Wisconsin · NCT07470723

• Evaluating Inclisiran for Children with Familial Hypercholesterolemia

  This study is testing if a new medication called inclisiran can safely lower cholesterol levels in children aged 6 to under 12 who have a genetic condition that causes high cholesterol.

  Recruiting at 64 sites Phase 3 Novartis · San Francisco, California and 65 other locations · NCT06597019

• Evaluating inclisiran for children with a rare cholesterol condition

  This study is testing if a new cholesterol-lowering drug called inclisiran is safe and effective for children aged 2 to under 12 who have a rare condition that causes very high cholesterol levels.

  Recruiting at 19 sites Phase 3 Novartis · San Francisco, California and 18 other locations · NCT06597006

• Registry for hereditary cardiovascular diseases in Brazil

  This study is trying to create a registry of Brazilian patients with hereditary heart diseases to see how common certain genetic changes are in people with these conditions.

  Recruiting at 27 sites Hospital do Coracao · Rio Branco, Acre and 26 other locations · NCT06546137

• Exploring YOLT-101 for treating Familial Hypercholesterolemia

  This study is testing a new treatment called YOLT-101 to see if it can safely lower cholesterol levels in people with familial hypercholesterolemia.

  Recruiting Early Phase 1 RenJi Hospital · Shanghai, Shanghai Municipality · NCT06458010

• Atlantic program to optimize cholesterol-lowering care

  This program will try coordinated outreach with primary care providers to lower LDL-C in people with familial hypercholesterolemia or LDL-C ≥160 mg/dL.

  Recruiting Atlantic Health System · Clark, New Jersey and 1 other locations · NCT06439654

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.