Cascade genetic screening for familial hypercholesterolemia
Summary description of the study
General context In Switzerland, there are about 40,000 individuals affected by familial hypercholesterolemia (FH), but only 15% of them are known. This condition is associated with an elevation of bad cholesterol (LDL-c) and increases the risk of cardiovascular disease occurring at a young age. Thus, it is expected that 5,000 patients with FH will suffer a cardiovascular event in the next 5 years in Switzerland. This underdiagnosis is a missed opportunity for prevention, and cascade screening of relatives could therefore help reduce cardiovascular risk. However, the implementation of a multicenter familial cascade screening program has never been tested in Switzerland. Direct contact by the physician with the family members of a patient without their consent is not possible. Aim and hypothesis Our objective is to test in a study across Switzerland whether cascade screening of the family members of a patient with FH using a centralized service promoting the direct approach will increase the detection rate of patients with FH. Secondary outcomes measured at one year include optimal use of lipid-lowering medications and control of LDL cholesterol levels.
(BASEC)
Intervention under investigation
The intervention component will consist of using a centralized computer system with the sending of messages to carry out three cycles of cascade screening of family members. Contact with relatives will be initiated by the index case and supported by a physician and a centralized service. The index case will receive an email or a WhatsApp message that they can then forward to their first-degree relatives. The email/message will contain a link to a secure web application with a code for login. The application will provide information on the mode of transmission of FH, the cardiovascular risk associated with FH, and how to reduce this risk. The relative can then fill in the information - first name, last name, email, relationship to the index case - and give their consent to be contacted for the study. The nearest specialized clinic will then contact the relative to arrange for a new screening.
(BASEC)
Disease under investigation
familial hypercholesterolemia (FH)
(BASEC)
Have a high LDL cholesterol level and a family or personal history of early cardiovascular disease (BASEC)
Exclusion criteria
Do not have contactable first-degree relatives (BASEC)
Trial sites
Bellinzona, Bern, Geneva, Lausanne, Sion, St. Gallen, Zurich
(BASEC)
Sponsor
Swiss heart foundation
(BASEC)
Contact
Contact Person Switzerland
David Nanchen
021 314 61 07
david.nanchen@clutterunisante.chCentre universitaire de médecine générale et santé publique, Unisanté
(BASEC)
General Information
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
(ICTRP)
Scientific Information
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
(ICTRP)
Name of the authorising ethics committee (for multicentre studies, only the lead committee)
Ethics Committee Vaud
(BASEC)
Date of authorisation
22.10.2020
(BASEC)
ICTRP Trial ID
NCT04419090 (ICTRP)
Official title (approved by ethics committee)
Cascade Genetic Testing of Familial Hypercholesterolemia (CATCH) (BASEC)
Academic title
Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial (ICTRP)
Public title
Cascade Genetic Testing of Familial Hypercholesterolemia (ICTRP)
Disease under investigation
Familial Hypercholesterolemia (ICTRP)
Intervention under investigation
Other: web-based centralized service and message (ICTRP)
Type of trial
Interventional (ICTRP)
Trial design
Allocation: Randomized. Intervention model: Parallel Assignment. Primary purpose: Screening. Masking: None (Open Label). (ICTRP)
Inclusion/Exclusion criteria
Gender: All
Maximum age: N/A
Minimum age: 5 Years
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
(ICTRP)
not available
Primary and secondary end points
the yield of detection of familial hypercholesterolemia (FH) (ICTRP)
not available
Registration date
not available
Incorporation of the first participant
not available
Secondary sponsors
Swiss Heart Foundation (ICTRP)
Additional contacts
David Nanchen, MD, Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland (ICTRP)
Secondary trial IDs
2020-01271 (ICTRP)
Results-Individual Participant Data (IPD)
Undecided (ICTRP)
Further information on the trial
https://clinicaltrials.gov/ct2/show/NCT04419090 (ICTRP)
Results of the trial
Results summary
lay-summary.pdfLink to the results in the primary register
not available