The Electronic Cardiovascular Genetics (eCG) Clinic for Presymptomatic Genetic Counselling

NCT06431425 | Recruiting DMC

• 1 other identifier: IMDI104021006
• Study Type: interventional
• Target: 170
• Locations: 1 country
• Sites: 1

Brief Summary

Inherited cardiovascular conditions generally inherit following an autosomal dominant pattern. When a mutation is detected in the proband, relatives can have predictive DNA testing, and - when they are carrier - be monitored and timely treated if needed. Currently, less than half of relatives attends genetic counselling. With the eCG Family Clinic, an easily accessible virtual clinic which better suits the needs and preferences of relatives will be offered. At the eCG Family Clinic, relatives will receive tailored information to support informed decision-making, a DNA-test at home if desired, and can be referred for local cardiac monitoring if relatives appear to be a carrier. Implementation of the eCG Family Clinic in clinical practice is compared to current practice in this clinical trial.

Conditions

Inherited Cardiac Disease

Outcome Measures

Primary Outcomes (2)

• Uptake

  Uptake of genetic counselling and predictive DNA testing: i.e., the number of family members attending genetic counselling / pursuing genetic testing, relative to the total number of family members eligible for genetic counselling / genetic testing.

  1 year post disclosure of the proband result

• Experience with the eCG Family Clinic

  Measured using a self-constructed 9-item questionnaire, with answer options ranging from 1=totally disagree to 5=totally agree (score range: 0-36). In addition, the Dutch patient Satisfaction Questionnaire (PSQ) will be administered among relatives. This questionnaire consists of 5 questions using a 10-point scale (1=not at all to 10=a lot). Scores range from 0-45. A higher score indicates higher satisfaction.

  T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results

Secondary Outcomes (4)

• Empowerment / genetic counselling outcomes

  T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results

• Informed decision-making

  T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results

• Impact on feelings of anxiety

  T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results

• Efficiency

  Administered per genetic consultation through study completion, on average two years

Study Arms (2)

Digital care path (eCG Family Clinic)

EXPERIMENTAL

Individuals included in the intervention group (eCG Family Clinic), will receive an invitation to the DNA-poli platform after the proband adds their email address to the digital clinic at risk relatives list. The eCG Family Clinic serves as the pre-test counseling, afterwards counseling by a healthcare professional can be requested. Subsequently the at-risk relative decides whether to get genetically tested and if the results are communicated via the DNA-poli platform or via telephone.

Behavioral: eCG Family Clinic

Current clinical practice

NO INTERVENTION

Individuals included in the control group, will receive the family letter via the proband. The relative needs to contact their general practitioner to get a referral to the genetic department. The relative sets up an appointment with a genetic counselor. The relative has a face-to-face session with a healthcare professional and will decide during this conversation whether to get genetically tested. When results are in, another face-to-face appointment is set to discuss the result and if applicable, follow-up steps will be discussed.

Interventions

eCG Family Clinic BEHAVIORAL

The DNA-poli is an online tool which is designed as an addition to the current genetic counseling method to make the process more efficient and to increase the uptake without compromising counseling quality. Probands can invite their at-risk family members by entering their email addresses. The family members are invited to the DNA-poli via which they can get all the information needed to make a well-considered decision about genetic testing. The information is provided in different formats, for example via a virtual assistant and via videos, which they can evaluate at their own pace, and which can be reread or rewatched. Afterwards they can request an appointment with a health care professional and make a definite decision about genetic testing.

Also known as: DNA poli

Digital care path (eCG Family Clinic)

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Probands:
• \> 18 y/o
• Diagnosed with inherited hypertrophic cardiomyopathy (HCM) or dialted cardiomyopathy (DCM))
• Class 4 or 5 variant identified.
• Access to a working laptop or computer device.
• At risk relatives:
• \> 18 y/o
• First degree family member, or second degree in case of a deceased first degree relative
• Access to a working laptop or computer device.
• Healthcare professionals:
• \- Genetic counsellors of the genetics department directly involved in the care given to the family.

You may not qualify if:

• \- Insufficient control of the Dutch language or digital skills.

Sponsors & Collaborators

• UMC Utrecht: lead
• Amsterdam UMC: collaborator
• University Medical Center Groningen: collaborator
• Radboud University Medical Center: collaborator

Study Sites (1)

University Medical Centre Utrecht

Utrecht, Utrecht, 3584 CX, Netherlands

RECRUITING

Central Study Contacts

Marlies van Lingen, MSc.

CONTACT

+31887553745; m.n.vanlingen@umcutrecht.nl

Lieke van den Heuvel, PhD

CONTACT

+31887553745; l.m.vandenheuvel-8@umcutrecht.nl

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Model Details: Non-inferiority randomised controlled trial with a parallel group design

Study Record Dates

• First Submitted: May 8, 2024
• First Posted: May 28, 2024
• Study Start: November 15, 2023
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: September 17, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)