EPIRUS FH Reverse Cascade Screening

Not yet recruiting

• Conditions: Familial Hypercholesterolemia

• Registration Number: NCT05825612
• Lead Sponsor: Hellenic Atherosclerosis Society

Brief Summary

Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If left untreated, lifelong exposure to elevated LDL-C leads to a substantially increased risk of premature cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, available evidence shows that FH is under-diagnosed and under-treated.

Childhood is the optimal period for FH screening, because due to minimal dietary and hormonal influences, LDL-C levels reflect predominantly the genetic component in children and are well suited to discriminate FH from other causes of elevated LDL-C. If FH remains untreated in this latent stage of the disease, individuals show a 10-fold increase of cardiovascular risk during early and middle adulthood. In this context, an effective approach for detecting FH would be a screening during childhood or in young adolescents in combination with reverse cascade screening of first-degree relatives of FH individuals.

EPIRUS-FH registry is a model program of reverse cascade screening for FH in children and adolescents in Northwest Greece that aims to increase public and physician awareness, strengthen the national registry of familial hypercholesterolemia (HELLAS-FH) and constitute the core for a national FH registry in children and adolescents in Greece.

Detailed Description

Not available

Study Timeline

• Status Verified: 2023-04
• Study First Submitted: 2023-04-11
• Study First Submitted QC: 2023-04-11
• Last Update Submitted: 2023-04-11
• Study First Posted: 2023-04-24
• Last Update Posted: 2023-04-24
• Study Start: 2023-05
• Primary Completion: 2033-05
• Study Completion: 2033-05

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

• LDL-C >160 mg/dL on two seperate measurements 3 months apart
• LDL-C >130 mg/dL + family history of premature coronary artery disease or hypercholesterolemia in one parent
• Children and adolescents on cholesterol-lowering medication

Exclusion Criteria

• Refusal to sign the consent form and disagreement with the terms of participation.
• Any clinically significant disorder recognized at the time of the preliminary assessment, which in the judgment of the investigator would disqualify patient's participation in the study.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Diagnosis of Familial Hypercholesterolemia	Baseline	Type of FH (Heterozygous FH, Homozygous FH). In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified).; Age at diagnosis of FH.