Cascade Genetic Testing of Familial Hypercholesterolemia (CATCH)

University Center for Primary Care and Public Health (Unisanté)

Status: Completed

Conditions: Familial Hypercholesterolemia

Treatments: Other: web-based centralized service and message

Study type: Interventional

Funder types: Other

Identifiers

NCT04419090

2020-01271

Details and patient eligibility

About

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.

Enrollment: 379 patients

Sex: All

Ages: 5+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Screening

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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379 participants in 4 patient groups

Monogenic positive FH, direct contact

Experimental group

Treatment:

Other: web-based centralized service and message

Monogenic positive FH, usual care

No Intervention group

Monogenic negative FH, direct contact

Experimental group

Treatment:

Other: web-based centralized service and message

Monogenic negative FH, usual care

No Intervention group