Plain English Summary
Background and study aims
Cardiomyopathy is a long term disease that affects the heart muscle. It involves the muscle walls of the heart have become stretched and thin so they are no longer effective at pumping blood around the body. It is an inherited (genetic) condition, which means that people are more likely to develop it if their parents are affected. Increasing numbers of relatives of people with cardiomyopathy are being identified and followed up by cardiologists so that preventative action and treatment can be started, however given limited health care resources, good quality low cost alternative approaches are needed. This study is going to look at the effectiveness of cardiogenetics clinic (CGC) appointments led by a genetic counsellor with a nursing background, in which relatives have their DNA tested to find out if they will develop the condition. The aim of this study is to compare how many people take up CGC appointments compared to normal care, and compare the resources the two consultations use.
Who can participate?
Healthy adults aged between 18 and 40 who have a normal UK diet, including 'junk food' at least once per week.
What does the study involve?
Participants are randomly allocated to one of two groups. Those in the first group receive cardiogenetics clinic (CGC) appointments with a cardiogenetics councillor. During the consultations, medical history and risks of developing a heart condition are discussed, and DNA samples are taken to find out if the participant is genetically predisposed to developing a heart condition. Those in the second group receive a standard follow up appointment with a cardiologist only in which they receive general assessments testing for a heart problem such as a heart scan and blood pressure meaasurements. After each consultation for the one and a half years of the study, amount of relatives who attend the appointments and their satisfaction with the appointments are measured.
What are the possible benefits and risks of participating?
There is a possibility that participants could benefit from improved health and be less likely to develop a heart condition. There are no direct risks involved to those taking part.
Where is the study run from?
1. University Medical Center Groningen (Netherlands)
2. Antonius Ziekenhuis, Sneek (Netherlands)
When is the study starting and how long is it expected to run for?
September 2015 to March 2016
Who is funding the study?
University Medical Center Groningen (Netherlands)
Who is the main contact?
Mrs Karin Nieuwhof
k.nieuwhof@umcg.nl
Trial website
Contact information
Type
Scientific
Primary contact
Mrs Karin Nieuwhof
ORCID ID
Contact details
University Medical Center Groningen
Hanzeplein 1
Groningen
9713 GZ
Netherlands
+31 (0)50 361 7229
k.nieuwhof@umcg.nl
Additional identifiers
EudraCT number
ClinicalTrials.gov number
Protocol/serial number
N/A
Study information
Scientific title
Follow-up care by a specialized genetic counsellor for patient relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison
Acronym
Study hypothesis
Quality of cardiological care, satisfaction and PPC is at least comparable between the cardiological and genetic counsellor/nurse-led follow-up care and costs are lower at the Cardiogenetic clinc.
Ethics approval
The UMCG Medical Ethical Review Committee declared this study to be exempt from formal review and approval (M11.108973)
Study design
Open-label randomized comparison of two different follow-up care modalities for first-degree relatives of index patients at risk for inherited cardiomyopathy
Primary study design
Interventional
Secondary study design
Randomised controlled trial
Trial setting
Hospitals
Trial type
Diagnostic
Patient information sheet
Not available in web format, please use the contact details below to request a patient information sheet.
Condition
Cardiomyopathy
Intervention
First-degree relatives of index patients not already known to have a DCM/HCM diagnosis (based on their first screening at a combined Cardiogenetics Clinic), but who are eligible for follow-up according to information from the local patient database, are randomly assigned (1:1) at the beginning of the study and stratified by one of the hospitals to receive one of two care models:
Group 1: Participants receive a cardiogenetics clinic (CGC) appointment. This involves being invited to an appointment and seen by a genetic counsellor. Family history, reproductive options and new diagnostic /treatment options or the results of DNA testing when appropriate, and encouragement for other relatives to have genetic or cardiologic screening are discussed. If the participants consented to predictive DNA testing, the genetic counsellor initiated this procedure immediately after the counselling session. If the genetic counsellor proposed further tests this is discussed immediately (in another room) with the supervising cardiologist (multidisciplinary context) and, in a joint consultation, additional diagnostics were discussed with the patient. The cardiologist later discussed the results of additional diagnostic tests with the participant.
Group 2: Participants receive regular follow-up care by a cardiologist
Follow up for all participants involves ECG, echocardiography, measurement of blood pressure, assessment of the patient and his or her family’s health and, as needed, providing information on DCM/HCM. Guided by the results of the cardiology investigations, according to the protocols and/or the patient/family history, further tests such as a Holter monitor, an exercise stress test or a cardiac MRI took place
Intervention type
Other
Phase
Drug names
Primary outcome measure
1. Uptake percentage of follow-up by relatives at either clinic during the study is measured using patient records following each consultation for 1.5 years
2. Perceived Personal Control (PPC) and patient satisfaction are determined using questionnaires following each consultation for 1.5 years
3. Results of supervision (like additional diagnostics, referral to cardiologist, wrong conclusions) are determined using patient records following each consultation for 1.5 years
4. Resource use and cost reductions are determined using patient records after the consult and personnel/ hospital information at 1.5 years
Secondary outcome measures
N/A
Overall trial start date
01/10/2011
Overall trial end date
01/04/2013
Reason abandoned (if study stopped)
Eligibility
Participant inclusion criteria
1. Aged > 16 years
2. Relative of patients with DCM/ HCM or mutation carriers
3. Participants must be either:
3.1. Carriers of mutations in the LMNA, DES or PLN genes, who are at a higher prior risk for malignant ventricular arrhythmias compared to other groups; or
3.2. Phenotype-negative relatives (over 16 years of age) of index patients with DCM or HCM with a proven pathogenic mutation and therefore at risk for developing DCM or HCM; or
3.3. Phenotype-negative relatives of index patients with potentially inherited DCM or HCM in whom no pathogenic mutation had been identified
Participant type
Mixed
Age group
Adult
Gender
Both
Target number of participants
150-200
Total final enrolment
189
Participant exclusion criteria
1. Any signs or symptoms of the disease
2. Presence of other heart diseases
3. A medical history with complex co-morbidity
Recruitment start date
01/08/2011
Recruitment end date
01/10/2011
Locations
Countries of recruitment
Netherlands
Trial participating centre
University Medical Center Groningen
Hanzeplein 1
Groningen
9713 GZ
Netherlands
Trial participating centre
Antonius Ziekenhuis Sneek
Bolswarderbaan 1
Sneek
8601 ZK
Netherlands
Sponsor information
Organisation
University Medical Center Groningen (Netherlands)
Sponsor details
Hanzeplein 1
Groningen
9713 GZ
Netherlands
+31 (0)50 361 7229
i.m.van.langen@umcg.nl
Sponsor type
Hospital/treatment centre
Website
Funders
Funder type
Hospital/treatment centre
Funder name
Universitair Medisch Centrum Groningen
Alternative name(s)
University Medical Center Groningen, UMCG
Funding Body Type
government organisation
Funding Body Subtype
government non-federal
Location
Netherlands
Results and Publications
Publication and dissemination plan
Planned publication of study results in the European Journal of Human Genetics.
Intention to publish date
31/12/2016
Participant level data
Not expected to be available
Basic results (scientific)
Publication list
2017 results in https://www.ncbi.nlm.nih.gov/pubmed/27901040 (added 09/08/2019)