Cascade Genetic Testing of Familial Hypercholesterolemia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

379 participants

Study Classification

INTERVENTIONAL

Study Start Date

2020-11-10

Study Completion Date

2023-12-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Familial Hypercholesterolemia

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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Monogenic positive FH, direct contact

Group Type EXPERIMENTAL

web-based centralized service and message

Intervention Type OTHER

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.

Monogenic positive FH, usual care

Group Type NO_INTERVENTION

No interventions assigned to this group

Monogenic negative FH, direct contact

Group Type EXPERIMENTAL

web-based centralized service and message

Intervention Type OTHER

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.

Monogenic negative FH, usual care

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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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.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* patients with severe hypercholesterolemia and familial or personal history of early-onset cardiovascular disease = Dutch Lipid Clinic Network score (DLNC) \>= 6 points.