Cascade Genetic Testing of Familial Hypercholesterolemia
- Conditions
- Familial Hypercholesterolemia
- Interventions
- Other: web-based centralized service and message
- 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
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 379
- patients with severe hypercholesterolemia and familial or personal history of early-onset cardiovascular disease = Dutch Lipid Clinic Network score (DLNC) >= 6 points.
- Patients without at least one contactable first-degree family members
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description Monogenic positive FH, direct contact web-based centralized service and message - Monogenic negative FH, direct contact web-based centralized service and message -
- 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Center for primary care and public health (Unisanté), University of Lausanne
🇨🇭Lausanne, Switzerland