CClinicalTrials.gg
CompletedNCT04419090CATCHUpdated Jan 18, 2024

Cascade Genetic Testing of Familial Hypercholesterolemia

An interventional study of web-based centralized service and message in Familial Hypercholesterolemia, sponsored by Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland. Completed at 1 site in Switzerland. Open to participants aged 5 Years and older. Per ClinicalTrials.gov, last updated 2024-01-18.

Sponsored by Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland · Not applicable, Interventional, and Screening

Phase
Not applicable
Study type
Interventional
Enrollment
379
Allocation
Randomized
Ages
5 Years and older
Sex
All
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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.

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Conditions studied

  • Familial Hypercholesterolemia
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In context

Hyperlipoproteinemia Type II

245 studies on the registry are indexed under Hyperlipoproteinemia Type II; 52 are open to participants now.

This study's enrollment of 379 is above the median of 86 across 170 interventional studies indexed under Hyperlipoproteinemia Type II.

Browse Hyperlipoproteinemia Type II studies →

Lead sponsor

Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland is the lead sponsor of 22 studies on the registry; 4 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
5 Years and older
Sexes eligible
All
Accepts 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

Exclusion Criteria:

  • Patients without at least one contactable first-degree family members
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Study design

Phase
Not applicable
Primary purpose
Screening
Allocation
Randomized
Intervention model
Parallel assignment
Masking
None (open label)
Enrollment
379 participants (actual)

Study arms

  • Experimental
    Monogenic positive FH, direct contact

    Other: web-based centralized service and message

  • No intervention
    Monogenic positive FH, usual care
  • Experimental
    Monogenic negative FH, direct contact

    Other: web-based centralized service and message

  • No intervention
    Monogenic negative FH, usual care

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.

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What researchers measure

Primary outcomes

  1. the yield of detection of familial hypercholesterolemia (FH)

    The yield of detection is the number of test performed/number of contactable relatives.

    Time frame: 2 years

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Study locations

1 site
  • Center for primary care and public health (Unisanté), University of Lausanne
    Lausanne, 1011, Switzerland
08

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 18, 2024, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT04419090
Lead sponsor
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
Collaborators
Swiss Heart Foundation
Responsible party
Sponsor
First posted
Jun 5, 2020
Start date
Nov 10, 2020
Primary completion
Dec 31, 2023
Completion
Dec 31, 2023
Last update
Jan 18, 2024

Study contacts

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

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jan 2024. You cannot join it, but the record below documents what was studied.

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