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Cascade Genetic Testing of Familial Hypercholesterolemia

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

Status
Completed
Phases
NA
Study type
Interventional
Source
ClinicalTrials.gov
Registry ID
NCT04419090
Acronym
CATCH
Enrollment
379
Registered
2020-06-05
Start date
2020-11-10
Completion date
2023-12-31
Last updated
2024-01-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial Hypercholesterolemia

Brief 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.

Interventions

OTHERweb-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.

Sponsors

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

Study design

Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SCREENING
Masking
NONE

Eligibility

Sex/Gender
ALL
Age
5 Years to No maximum
Healthy volunteers
No

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

Design outcomes

Primary

MeasureTime frameDescription
the yield of detection of familial hypercholesterolemia (FH)2 yearsThe yield of detection is the number of test performed/number of contactable relatives.

Countries

Switzerland

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Apr 15, 2026