CompletedNot Applicable

Cascade Genetic Testing of Familial Hypercholesterolemia

Switzerland379 participantsStarted 2020-11-10

Plain-language 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.

Who can participate

Age range5 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

the yield of detection of familial hypercholesterolemia (FH)

Timeframe: 2 years

Trial details

NCT IDNCT04419090

SponsorCenter for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2023-12-31

View on ClinicalTrials.gov More Familial Hypercholesterolemia trials