Cascade Genetic Testing of Familial Hypercholesterolemia

Familial Hypercholesterolemia Clinical Trial

— CATCH  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04419090
• Other study ID #: 2020-01271
• Status: Completed
• Phase: N/A
• Start date: November 10, 2020
• Est. completion date: December 31, 2023

Study information

• Verified date: January 2024
• Source: Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 379
• Est. completion date: December 31, 2023
• Est. primary completion date: December 31, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

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.

Locations

Country	Name	City	State
Switzerland	Center for primary care and public health (Unisanté), University of Lausanne	Lausanne

Sponsors (2)

Lead Sponsor	Collaborator
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland	Swiss Heart Foundation

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	the yield of detection of familial hypercholesterolemia (FH)	The yield of detection is the number of test performed/number of contactable relatives.	2 years