EPIRUS FH Reverse Cascade Screening

NCT05825612 | Not Yet Recruiting

• 1 other identifier: EPIRUS-FH
• Study Type: observational
• Target: 1,000
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Familial Hypercholesterolemia

Keywords

children; adolescents; reverse cascade screening

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (3)

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

Eligibility Criteria

• Age: 4 Years - 16 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Patients genetically diagnosed with familial hypercholesterolemia (FH). Non-affected (non-FH) individuals as healthy controls.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Hellenic Atherosclerosis Society: lead

Biospecimen

Retention: SAMPLES WITH DNA

Next-generation sequencing for the genes encoding PCSK9, APOB, LDLR και LDLRAP1.

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Haralampos Milionis

CONTACT

+302651099736; hmilioni@uoi.gr

Fotios Barkas

CONTACT

+306936636376; f.barkas@uoi.gr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 11, 2023
• First Posted: April 24, 2023
• Study Start: May 1, 2023
• Primary Completion (Estimated): May 1, 2033
• Study Completion (Estimated): May 1, 2033
• Last Updated: April 24, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share