NCT04419090

Cascade Genetic Testing of Familial Hypercholesterolemia

Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 379 (actual)
• Sponsor: Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland · Academic / Other
• Sex: All
• Age: 5 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Familial Hypercholesterolemia

Interventions

Type	Name	Description
OTHER	web-based centralized service and message	Perform three cycles of cascade screening through several generation of family members of an index case. The contact of relatives will be initiated by the index case and supported by a web-based centralized service. The index case will be provided with a prepared email or Whatsapp message that the index case can further forward to his first-degree relatives. The email/message will contain a link to a secured web application with a code for the connection. By clicking on the link, the relative will connect to a specifically designed app. The app will provide information about the transmission mode of FH, the cardiovascular risk associated with FH and the way how to reduce this risk. The relative can then fill out information and provide agreement to be contacted for the study. The nearest specialized clinic will then contact the relative to organize further screening with similar processes.

Timeline

• Start date: 2020-11-10
• Primary completion: 2023-12-31
• Completion: 2023-12-31
• First posted: 2020-06-05
• Last updated: 2024-01-18

Locations

1 site across 1 country: Switzerland