Clincosm LogoSign in Get a demo

EPIRUS FH Reverse Cascade Screening

Sponsor
Hellenic Atherosclerosis Society (Other)
Overall Status
Not yet recruiting
CT.gov ID
NCT05825612
Collaborator
(none)
1,000
Enrollment
120
Anticipated Duration (Months)

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    1000 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Reverse Cascade Screening for Familial Hypercholesterolemia in Children and Adolescents in Northwest Greece
    Anticipated Study Start Date :
    May 1, 2023
    Anticipated Primary Completion Date :
    May 1, 2033
    Anticipated Study Completion Date :
    May 1, 2033

    Arms and Interventions

    Arm Intervention/Treatment
    Heterozygous Familial Hypercholesterolemia

    Children and adolescents with Heterozygous Familial Hypercholesterolemia.
    Homozygous Familial Hypercholesterolemia

    Children and adolescents with Homozygous Familial Hypercholesterolemia.
    Unaffected (non-FH) individuals

    Children and adolescents not carrying the investigated FH mutations

    Outcome Measures

    Primary Outcome Measures

    1. 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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    4 Years to 16 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    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.

    Contacts and Locations

    Locations

    No locations specified.

    Sponsors and Collaborators

    • Hellenic Atherosclerosis Society

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Hellenic Atherosclerosis Society
    ClinicalTrials.gov Identifier:
    NCT05825612
    Other Study ID Numbers:
    • EPIRUS-FH
    First Posted:
    Apr 24, 2023
    Last Update Posted:
    Apr 24, 2023
    Last Verified:
    Apr 1, 2023
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Hellenic Atherosclerosis Society
    children
    adolescents
    reverse cascade screening
    Additional relevant MeSH terms:
    Hyperlipoproteinemia Type II
    Hypercholesterolemia

    Study Results

    No Results Posted as of Apr 24, 2023