Cascade genetic screening for familial hypercholesterolemia
Descrizione riassuntiva dello studio
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)
Intervento studiato
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)
Malattie studiate
familial hypercholesterolemia (FH)
(BASEC)
Have a high LDL cholesterol level and a family or personal history of early cardiovascular disease (BASEC)
Criteri di esclusione
Do not have contactable first-degree relatives (BASEC)
Luogo dello studio
Bellinzona, Berna, Ginevra, Losanna, Sion, San Gallo, Zurigo
(BASEC)
Sponsor
Swiss heart foundation
(BASEC)
Contatto per ulteriori informazioni sullo studio
Persona di contatto in Svizzera
David Nanchen
021 314 61 07
david.nanchen@clutterunisante.chCentre universitaire de médecine générale et santé publique, Unisanté
(BASEC)
Informazioni generali
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
(ICTRP)
Informazioni scientifiche
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
(ICTRP)
Nome del comitato etico approvante (per studi multicentrici solo il comitato principale)
Commissione d'etica Vaud
(BASEC)
Data di approvazione del comitato etico
22.10.2020
(BASEC)
ID di studio ICTRP
NCT04419090 (ICTRP)
Titolo ufficiale (approvato dal comitato etico)
Cascade Genetic Testing of Familial Hypercholesterolemia (CATCH) (BASEC)
Titolo accademico
Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial (ICTRP)
Titolo pubblico
Cascade Genetic Testing of Familial Hypercholesterolemia (ICTRP)
Malattie studiate
Familial Hypercholesterolemia (ICTRP)
Intervento studiato
Other: web-based centralized service and message (ICTRP)
Tipo di studio
Interventional (ICTRP)
Disegno dello studio
Allocation: Randomized. Intervention model: Parallel Assignment. Primary purpose: Screening. Masking: None (Open Label). (ICTRP)
Criteri di inclusione/esclusione
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)
non disponibile
Endpoint primari e secondari
the yield of detection of familial hypercholesterolemia (FH) (ICTRP)
non disponibile
Data di registrazione
non disponibile
Inclusione del primo partecipante
non disponibile
Sponsor secondari
Swiss Heart Foundation (ICTRP)
Contatti aggiuntivi
David Nanchen, MD, Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland (ICTRP)
ID secondari
2020-01271 (ICTRP)
Risultati-Dati individuali dei partecipanti
Undecided (ICTRP)
Ulteriori informazioni sullo studio
https://clinicaltrials.gov/ct2/show/NCT04419090 (ICTRP)
Risultati dello studio
Riepilogo dei risultati
lay-summary.pdfLink ai risultati nel registro primario
non disponibile