Inherited Cardiac DiseaseeCGNCT06431425
The Electronic Cardiovascular Genetics (eCG) Clinic for Presymptomatic Genetic Counselling
A study testing eCG Family Clinic in people with Inherited Cardiac Disease, run by UMC Utrecht at 1 site in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Inherited Cardiac Disease
- What is being tested?
- eCG Family Clinic
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 170 participants
- Where
- 1 siteNetherlands
- Study dates
- 15 Nov 2023to 1 Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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:
Show all 11Show fewer
- > 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.
Who cannot join
- Insufficient control of the Dutch language or digital skills.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Netherlands1 site, 1 recruiting
- Recruiting
University Medical Centre Utrecht
Utrecht, Utrecht, 3584 CX
Marlies van Lingen, MSc., +31887553745, m.n.vanlingen@umcutrecht.nl
Lieke van den Heuvel, PhD, +31887553745, l.m.vandenheuvel-8@umcutrecht.nl
About this study
Official title: The Electronic Cardiovascular Genetics (eCG) Clinic for Presymptomatic Genetic Counselling: Evaluation of Uptake, Psychological Impact and Satisfaction Among Users
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.
Read the 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
- Being tested
- eCG Family Clinic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
eCG Family ClinicBehavioural
Also called DNA poli
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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
Measured using the genetic counseling outcome scale (GCOS). The GCOS consists of 24 questions using a 7-point likert scale (1=totally disagree to 7=totally agree). Total scores range from 0-144, with a higher score indicating higher empowerment.
Measured: T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results
Informed decision-making
Measured the Decisional Conflict Scale (DSC). The DSC consists of 16 questions using a 5 point Likert Scale (1=totally disagree, to 5= totally agree, total score range 0-64). A higher score indicates higher certainty about the decision made. Furthermore, informed decision-making is measures by 5 self-constructed knowledge questions, which can be answered with 'yes', 'no' or 'I don't know'.
Measured: 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
Measured using the shortened State Trait Anxiety Inventory (STAI). The shortened STAI consists of 6 questions on a 4 point Likert scale (1=not at all, 4=a lot). Total scores range from 0-18, with a higher score indicating higher levels of anxiety.
Measured: T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results
Efficiency
Measured by administering time needed for counselling / administration per at-risk relative
Measured: Administered per genetic consultation through study completion, on average two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 May 2024
- Study start15 Nov 2023
- Primary completion1 Dec 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Cardiac DiseaseStudies of the same condition, open and under way.
- More trials run by UMC UtrechtThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- Non-inferiority randomised controlled trial with a parallel group design
- Masking
- None (open label)
- Enrolment
- 170 participants (estimated)
Sponsor and investigators
- Lead sponsor
- UMC Utrecht
- Sponsor type
- University, hospital or other
- Collaborators
- Amsterdam UMC, University Medical Center Groningen, Radboud University Medical Center
- Responsible party
- Principal investigator, Lieke M van den Heuvel, PhD, UMC Utrecht
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06431425
- Sponsor's protocol ID
- IMDI104021006
- Acronym
- eCG
- Status last verified
- Sep 2025
- First submitted
- 8 May 2024
- Last updated
- 17 Sep 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Electronic Cardiovascular Genetics (eCG) Clinic for Presymptomatic Genetic Counselling: Evaluation of Uptake, Psychological Impact and Satisfaction Among Users
- ClinicalTrials.gov ID
- NCT06431425
- Acronym / sponsor ID
- eCG / IMDI104021006
- Conditions
- Inherited Cardiac Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 170 participants (estimated)
- Lead sponsor
- UMC UtrechtUniversity, hospital or other
- Collaborators
- Amsterdam UMC, University Medical Center Groningen, Radboud University Medical Center
- Study start
- 15 Nov 2023 (actual)
- Primary completion
- 1 Dec 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 28 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Non-inferiority randomised controlled trial with a parallel group design
| Arm | Type | Receives |
|---|---|---|
| Digital care path (eCG Family Clinic) | Experimental | Behavioral: eCG Family ClinicIndividuals 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. |
| 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. |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- > 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.
- > 18 y/o
Key exclusion criteria (1 listed)
- Insufficient control of the Dutch language or digital skills.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| eCG Family ClinicAlso: DNA poliThe 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. | Behavioural | Digital care path (eCG Family Clinic) |
Primary outcome
Uptake
Time frame: 1 year post disclosure of the proband result
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.
Experience with the eCG Family Clinic
Time frame: T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results
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.
4 secondary outcomes
Empowerment / genetic counselling outcomes
Time frame: T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results
Informed decision-making
Time frame: 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
Time frame: T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results
Efficiency
Time frame: Administered per genetic consultation through study completion, on average two years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Sep 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing eCG Family Clinic in people with Inherited Cardiac Disease, run by UMC Utrecht at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marlies van Lingen, MSc. (+31887553745, m.n.vanlingen@umcutrecht.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Uptake (time frame: 1 year post disclosure of the proband result). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Sep 2025.