EPIRUS FH Reverse Cascade Screening

Familial Hypercholesterolemia Clinical Trial

Official title:

Reverse Cascade Screening for Familial Hypercholesterolemia in Children and Adolescents in Northwest Greece

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05825612
• Other study ID #: EPIRUS-FH
• Status: Not yet recruiting
• Start date: May 2023
• Est. completion date: May 2033

Study information

• Verified date: April 2023
• Source: Hellenic Atherosclerosis Society
• Contact: Haralampos Milionis
• Phone: +302651099736
• Email: hmilioni[@]uoi.gr
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 1000
• Est. completion date: May 2033
• Est. primary completion date: May 2033
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 4 Years to 16 Years

Eligibility

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.

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Hellenic Atherosclerosis Society

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnosis of Familial Hypercholesterolemia	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.	Baseline