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

NCT ID: NCT06431425

Last Updated: 2025-09-17

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 170 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-11-15
• Study Completion Date: 2026-12-01

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.

Detailed Description

Background:

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 (intervention group) is compared to current practice (control group) in this clinical trial.

Hypotheses:

It is hypothesized that the eCG Family Clinic can lower practical barriers for at-risk relatives to attend genetic counselling and equally or better suit the needs of probands and relatives in this regard. A higher uptake of presymptomatic counselling in the eCG Family Clinic (intervention) group is expected.

Design:

A non-inferiority randomised controlled trial (RCT) design with two study arms (parallel-group, control- and intervention group) for this study was chosen. In this study, probands, at-risk relatives and genetic healthcare professionals will be recruited for this study. The Medical Ethical Committee of the University Medical Centre Utrecht (UMCU, NedMec) has approved the study design.

Measures:

In this RCT, the following outcome measures will be evaluated: (1) uptake of presymptomatic counselling among at-risk relatives, (2) satisfaction with provided care among healthcare professionals, probands and at-risk relatives, (3) impact on feelings of anxiety and worry among at-risk relatives, (4) time requested for care provision and administration. Uptake of presymptomatic testing will be evaluated using file research. Data on the other outcome measures will be collected using questionnaires. First, probands will be asked to fill out one questionnaire after informing at-risk relatives. In addition, at-risk relatives are asked to fill out a questionnaire twice: (a) shortly after the presymptomatic counselling (time-point 1) and, (b) after two/three months, in which at-risk relatives who chose to have DNA-testing, will have received their results. Finally, healthcare professionals involved in providing counselling will be asked to fill out one questionnaire after study completion. Questionnaires will also be used to administer sociodemographic and clinical characteristics of study participants.

Sample size calculation:

Assuming a two-sided 5% significance level and a power of 80%, 238 at-risk relatives ( 119 per study arm) will be included. Previous literature shows that on average four adult relatives per proband are at 50% risk of inheriting the genetic mutation. Using a conservative estimate of 3.5 relatives per proband, a total of 68 probands (34 per study arm) needs to be included in this study.

Statistical analyses:

Sociodemographic and clinical characteristics will be analysed using descriptive and frequency statistics. Differences in participant characteristics between study arms will assessed with chi-square tests / t-tests, as appropriate. Differences in uptake of genetic counselling will be analysed using chi-square tests; logistic regression analyses will be conducted to assess differences in uptake while controlling for the influence of coviarates. Multilevel analyses will be performed to assess whether the study group has an impact on satisfaction with the care provided and impact on psychological functioning, adjusted for coviarates. SPSS version 29.0.1 will be used to perform statistical analyses. A p-level of p<0.05 will be used.

Conditions

Inherited Cardiac Disease

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: HEALTH_SERVICES_RESEARCH
• Blinding Strategy: NONE

Study Groups

Digital care path (eCG Family Clinic)

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.

Group Type: EXPERIMENTAL

eCG Family Clinic

Intervention Type: 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.

Current clinical practice

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.

Group Type: NO_INTERVENTION

No interventions assigned to this group

Interventions

eCG Family Clinic

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.

Intervention Type: BEHAVIORAL

Other Intervention Names

DNA poli

Eligibility Criteria

Inclusion Criteria

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.

Exclusion Criteria

• Insufficient control of the Dutch language or digital skills.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 90 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Amsterdam UMC

OTHER

Sponsor Role: collaborator

University Medical Center Groningen

OTHER

Sponsor Role: collaborator

Radboud University Medical Center

OTHER

Sponsor Role: collaborator

UMC Utrecht

OTHER

Sponsor Role: lead

Responsible Party

Lieke M van den Heuvel, PhD

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

University Medical Centre Utrecht

Utrecht, Utrecht, Netherlands

Site Status: RECRUITING

Countries

Netherlands

Central Contacts

Marlies van Lingen, MSc.

Role: CONTACT

m.n.vanlingen@umcutrecht.nl

+31887553745

Lieke van den Heuvel, PhD

Role: CONTACT

l.m.vandenheuvel-8@umcutrecht.nl

+31887553745

Facility Contacts

Marlies van Lingen, MSc.

Role: primary

m.n.vanlingen@umcutrecht.nl

+31887553745

Lieke van den Heuvel, PhD

Role: backup

l.m.vandenheuvel-8@umcutrecht.nl

+31887553745

Other Identifiers

IMDI104021006

Identifier Type: -

Identifier Source: org_study_id