Cascade Genetic Testing of Familial Hypercholesterolemia

Not Applicable

Completed

• Conditions: Familial Hypercholesterolemia

• Registration Number: NCT04419090
• Lead Sponsor: Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland

Brief Summary

Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an increased risk of early-onset myocardial infarction. To improve detection and treatment of patient with FH, cascade genetic testing in families is recommended by many cardiovascular prevention guidelines. However, the implementation of national genetic cascade screening is challenging, because legal protection to guarantee privacy of data do not authorize physicians to directly contact at-risk relatives. Using current mobile information technologies and a centralized web-based platform, we designed an ethical genetic cascade screening program for FH to be tested in Switzerland.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-06-03
• Study First Submitted QC: 2020-06-03
• Study First Posted: 2020-06-05
• Study Start: 2020-11-10
• Primary Completion: 2023-12-31
• Study Completion: 2023-12-31
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-16
• Last Update Posted: 2024-01-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 379

Inclusion Criteria

• patients with severe hypercholesterolemia and familial or personal history of early-onset cardiovascular disease = Dutch Lipid Clinic Network score (DLNC) >= 6 points.

Exclusion Criteria

• Patients without at least one contactable first-degree family members

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
the yield of detection of familial hypercholesterolemia (FH)	2 years	The yield of detection is the number of test performed/number of contactable relatives.

Trial Locations

Locations (1)

Center for primary care and public health (Unisanté), University of Lausanne; 🇨🇭 Lausanne, Switzerland