Cascade Genetic Testing of Familial Hypercholesterolemia

NCT04419090 | Completed DMC

• 1 other identifier: 2020-01271
• Study Type: interventional
• Target: 379
• Locations: 1 country
• Sites: 1

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.

Conditions

Familial Hypercholesterolemia

Outcome Measures

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.

  2 years

Study Arms (4)

Monogenic positive FH, direct contact

EXPERIMENTAL

Other: web-based centralized service and message

Monogenic positive FH, usual care

NO INTERVENTION

Monogenic negative FH, direct contact

EXPERIMENTAL

Other: web-based centralized service and message

Monogenic negative FH, usual care

NO INTERVENTION

Interventions

web-based centralized service and message 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, direct contact; Monogenic positive FH, direct contact

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland: lead
• Swiss Heart Foundation: collaborator

Study Sites (1)

Center for primary care and public health (Unisanté), University of Lausanne

Lausanne, 1011, Switzerland

Location

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• David Nanchen, MD

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 3, 2020
• First Posted: June 5, 2020
• Study Start: November 10, 2020
• Primary Completion: December 31, 2023
• Study Completion: December 31, 2023
• Last Updated: January 18, 2024

Record last verified: 2024-01

Locations

CH (1)