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Cascade Genetic Testing of Familial Hypercholesterolemia

NCT04419090 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 379

Last updated 2024-01-18

No results posted yet for this study

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.

Conditions

  • Familial Hypercholesterolemia

Interventions

OTHER

web-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 & Collaborators

  • Swiss Heart Foundation

    collaborator OTHER

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

    lead OTHER

Principal Investigators

  • David Nanchen, MD · Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland

Study Design

Allocation
RANDOMIZED
Purpose
SCREENING
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
5 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-10
Primary Completion
2023-12-31
Completion
2023-12-31

Countries

  • Switzerland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04419090 on ClinicalTrials.gov