Detecting Familial Hypercholesterolemia in Children
Early Detection of Familial Hypercholesterolemia in Children in Tarragona Province
Institut Investigacio Sanitaria Pere Virgili · NCT04370899
This study is trying to find out if we can identify children with a genetic condition that causes high cholesterol so they can get early treatment and avoid heart problems later in life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Ages | 2 Years to 18 Years |
| Sex | All |
| Sponsor | Institut Investigacio Sanitaria Pere Virgili (other) |
| Locations | 2 sites (Reus, Tarragona and 1 other locations) |
| Trial ID | NCT04370899 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are children aged 2 to 18 years with LDL cholesterol levels above 135 mg/dL and a family history of hypercholesterolemia.
Not a fit: Patients who are under 2 years old, over 18 years old, or have high cholesterol due to secondary causes will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and treatment of familial hypercholesterolemia in children, reducing long-term cardiovascular risks.
How similar studies have performed: Other studies have shown success in early detection and management of familial hypercholesterolemia, indicating that this approach is promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Reus, Tarragona and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Familial Hypercholesterolemia, Familial Hypercholesterolemia - Heterozygous, Familial Hypercholesterolemia - Homozygous, Childhood, cardiovascular risk, lifestyle assessment, genetic disorder, LDL cholesterol