Congenital Complete Heart BlockNCT02881671
Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms
An observational study of Congenital Complete Heart Block and Cardiac Conduction Defect Progressive, run by Nantes University Hospital at 2 sites in France.
Trial summary
Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Congenital Complete Heart Block, Cardiac Conduction Defect Progressive
- What is being tested?
- genetic blood analysis
- How many people
- 2,600 participants
- Where
- 2 sitesFrance
- Study dates
- Jan 2011to Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients of both sex with Atrioventricular Conduction Defects and relatives examined during familial screening
Congenital atrioventricular block inclusion criteria:
- Patients with idiopathic congenital atrioventricular block diagnosed before the age of 15 years.
- Non-immune congenital atrioventricular block documented by a maternal serology (negative for anti-nuclear antibodies or anti Ro-SSA antibodies and anti La-SSB antibodies)
- Written consent to participate to the study and written consent of both parents.
- Parents of children with idiopathic congenital atrioventricular block.
Congenital atrioventricular block exclusion criteria
- Positive maternal serology
- Patients or parents who are unable to sign or who refuse to sign an informed consent
Progressive Cardiac Conduction Disease inclusion criteria
- Patients with isolated cardiac conduction disorder with a normal morphology of the heart confirmed by echocardiography.
- Relatives of patients with isolated cardiac conduction disorder
- Written consent to participate to the study
Progressive Cardiac Conduction Disease exclusion criteria
- Patients with cardiac conduction disorder associated with a structural cardiopathy or due to an identified cause
- Patients who are unable to sign or who refuse to sign an informed consent
Trial locations and contacts
2 sites in 1 country.
vincent PROBST, MD-PHD contact
France2 sites, 2 recruiting
- Recruiting
Chu Nantes
Nantes
VINCENT PROBST, MD-PHD
- Recruiting
Chu Rennes
Rennes
PHILIPPE MABO, MD-PHD
About this study
Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.
Read the detailed description
Atrioventricular blocks are a heterogenous group of diseases involving children with congenital atrioventricular block (CAB) and more frequently elderly patients affected by progressive Cardiac Conduction Disease (PCCD).
The aim of the study is to uncover the genetic model, likely more complex than previously appreciated, and characterize the gene expression remodelling leading to high degree of conduction defect.
The recent technological developments in genomics coupled to the availability of large and highly characterized biobanks of patients have now set the stage:
- To identify rare genetic variants/new genes contributing to CAB and PCCD by exome sequencing on familial form suspected to impact strongly the phenotype
- To identify common genetic variants modulating the risk of developing (severe) PCCD by GWAS
- To estimate the prevalence and relevance of genes uncovered by TASK#1, #2 in large patient sets (PCCD and CAB) by NGS.
- Being tested
- genetic blood analysis
- Keywords
- genetic, congenital atrioventricular block, progressive Cardiac Conduction Disease
- Medical subject headings
- Congenital heart block, Bundle-Branch Block
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic blood analysisGenetic
patients will undergo a blood sample (15 ml) to analyse their genetic profile
| Study group | Role | What they receive |
|---|---|---|
| Patients with congenital atrioventricular block | Patient with congenital atrioventricular block Receives: Genetic: genetic blood analysis | |
| relatives with congenital atrioventricular block | Normal relatives of patients with congenital atrioventricular block Receives: Genetic: genetic blood analysis | |
| Patients with progressive Cardiac Conduction Disease | Patients with progressive Cardiac Conduction Disease, Receives: Genetic: genetic blood analysis | |
| relatives with progressive Cardiac Conduction disesae | Normal relatives of patients with progressive Cardiac Conduction Disease Receives: Genetic: genetic blood analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic variations responsible of Atrioventricular Conduction Defects
Measured: inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Aug 2016 (estimated)
- Study startJan 2011
- Primary completionDec 2021 (estimated)
- Study completionDec 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Complete Heart BlockStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe 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
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 2,600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- vincent PROBST, MD-PHD, Principal investigator, Nantes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02881671
- Sponsor's protocol ID
- PROG/11/33
- Status last verified
- Sep 2021
- First submitted
- 24 Aug 2016
- Last updated
- 9 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms
- ClinicalTrials.gov ID
- NCT02881671
- Acronym / sponsor ID
- PROG/11/33
- Keywords
- genetic, congenital atrioventricular block, progressive Cardiac Conduction Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 2,600 participants (estimated)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Study start
- Jan 2011 (actual)
- Primary completion
- Dec 2021 (estimated)
- Study completion
- Dec 2021 (estimated)
- First posted
- 29 Aug 2016 (estimated)
- 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.
Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.
Detailed description
Atrioventricular blocks are a heterogenous group of diseases involving children with congenital atrioventricular block (CAB) and more frequently elderly patients affected by progressive Cardiac Conduction Disease (PCCD).
The aim of the study is to uncover the genetic model, likely more complex than previously appreciated, and characterize the gene expression remodelling leading to high degree of conduction defect.
The recent technological developments in genomics coupled to the availability of large and highly characterized biobanks of patients have now set the stage:
- To identify rare genetic variants/new genes contributing to CAB and PCCD by exome sequencing on familial form suspected to impact strongly the phenotype
- To identify common genetic variants modulating the risk of developing (severe) PCCD by GWAS
- To estimate the prevalence and relevance of genes uncovered by TASK#1, #2 in large patient sets (PCCD and CAB) by NGS.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Patients with congenital atrioventricular block | – | Genetic: genetic blood analysisPatient with congenital atrioventricular block |
| relatives with congenital atrioventricular block | – | Genetic: genetic blood analysisNormal relatives of patients with congenital atrioventricular block |
| Patients with progressive Cardiac Conduction Disease | – | Genetic: genetic blood analysisPatients with progressive Cardiac Conduction Disease, |
| relatives with progressive Cardiac Conduction disesae | – | Genetic: genetic blood analysisNormal relatives of patients with progressive Cardiac Conduction Disease |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients of both sex with Atrioventricular Conduction Defects and relatives examined during familial screening
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 |
|---|---|---|
| genetic blood analysispatients will undergo a blood sample (15 ml) to analyse their genetic profile | Genetic | Patients with congenital atrioventricular block, Patients with progressive Cardiac Conduction Disease, relatives with congenital atrioventricular block, relatives with progressive Cardiac Conduction disesae |
Primary outcome
Identification of genetic variations responsible of Atrioventricular Conduction Defects
Time frame: inclusion
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Sep 2021.
- Individual participant dataSharing planned: No
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. This study is not recruiting at the moment.
vincent PROBST, MD-PHD contact
vincent PROBST, MD-PHD principal investigator
Nantes University Hospital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Complete Heart Block and Cardiac Conduction Defect Progressive, run by Nantes University Hospital at 2 sites in France.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 9 Sep 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact vincent PROBST, MD-PHD (vincent.probst@chu-nantes.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic variations responsible of Atrioventricular Conduction Defects (time frame: inclusion). 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 9 Sep 2021.