Familial hypercholesterolemia identification through innovative use of existing laboratory data

• Conditions: Cardiovascular disease; 10003216

• Registration Number: NL-OMON51701
• Lead Sponsor: Medisch Diagnostische Centra Atalmedial

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 600

Inclusion Criteria

Patients with severe hypercholesterolemia (LDL-cholesterol level above 99,5th
percentile for age and sex).

Exclusion Criteria

Three failed blood withdrawal attempts.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main outcome in this study will be prevalence of genetically confirmed FH<br /><br>in a preselected population of individuals with severe hypercholesterolemia<br /><br>(diagnostic yield). DNA genotyping in this study will be performed using a<br /><br>customized Illumina GSA v3 array. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secundary study parameter will be the diagnostic yield of existing clinical<br /><br>criteria for genetically confirmed FH. </p><br>