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EPIRUS FH Reverse Cascade Screening

NCT05825612 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2023-04-24

No results posted yet for this study

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.

Conditions

  • Familial Hypercholesterolemia

Sponsors & Collaborators

  • Hellenic Atherosclerosis Society

    lead OTHER

Eligibility

Min Age
4 Years
Max Age
16 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-05-31
Primary Completion
2033-05-31
Completion
2033-05-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05825612 on ClinicalTrials.gov