Building a local DNA bank to study causes of congenital heart defects
Collects blood samples to build a DNA bank for people with congenital heart defects.
Key facts
- Who runs it
- Assistance Publique Hopitaux De Marseille
- Where
- Marseille, FranceSee the site
- Trial code
- Registry title
- Creation of a French South-Eastern Database and DNA-bank of Congenital Heart Disease to Explore the Genetic Pathways
- Status
- Recruiting
- People taking part
- 300 people, planned
- Started
- 17 Jan 2017
- Expected to end
- Mar 2028
- Type of study
- Interventional
- Treatments tested
- blood sample
- Record updated
- 13 March 2023
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with a heart defect present from birth, treated at the Timone children's hospital in Marseille. It collects blood samples for a DNA bank.
- Sex
- All sexes can join.
- Disease stage
- A congenital heart defect seen on a heart ultrasound (echocardiography), within the Houyel and Bonnet classification.
Main reasons for not taking part
- Pregnant women cannot join.
- People who cannot understand or sign the consent, or whose parent or legal guardian cannot (for minors).
- People in an emergency situation.
- People deprived of freedom or living in a health or social institution.
- People without social security coverage.
The registry criteria, word for word
Show all 9 criteriaShow less
Who can take part
- Echocardiographic diagnosis of congenital heart defect falling within the classification Houyel and Bonnet
- Necessity of making a blood test regardless of study
- Medical care in the AP-HM Timone Hospital children, medical-surgical unit of pediatric and congenital cardiology, Marseille - These Parent Child
Who cannot take part
- Pregnant women
- Patients or parent / legal guardian (if minor) in physical or mental incapacity to understand or sign the consent
- People in Emergencies
- Persons deprived of freedom
- Persons not beneficiaries of a social security scheme
- Persons in health or social institution
Where in France
- Assistance Publique Hôpitaux de MarseilleMarseille, FranceContact: caroline OVAERT (principal investigator)Taking people
About the trial
What the trial wants to find out
Congenital heart defects are seen in 0,8% of life births. In France this means more than 5000 newborns per year. The south-east region of France is particularly affected as a result of a higher birth rate and consanguinity, when compared to other regions. The majority of congenital heart diseases remain unexplained. Genetic causes are indisputable but remain poorly understood. Genetic research needs the availability of a large-scale DNA collection, guided by a robust phenotypic classification. Such a DNA-bank has been created in Paris (CARREG DNA bank, created by the M3C reference centre for congenital heart diseases). Such a bank is currently unavailable in south-east France. To transport biological specimens from Marseille to Paris would be very expensive. In addition, the whole infrastructure required for correct diagnosis and classification of the congenital heart diseases, for sampling, for storage of the samples and genetic analysis, does exist in our AP-HM hospital and in our AMU research unit. For those reasons it is highly preferable to elaborate such a database and DNA-bank locally. The acronym SEA-HD (South-EAst-Heart-Diseases) would be used to name this DNA-bank
The group in the trial
- Congenital heart defectsTreatment being tested
Treatment: blood sample
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Creation of a French South-Eastern Database and DNA-bank of Congenital Heart Disease to Explore the Genetic Pathways
- Plain-language title
- Building a local DNA bank to study causes of congenital heart defectsGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 14 November 2026.
- Record updated
- 13 March 2023