Creation of a French South-Eastern Database and DNA-bank of Congenital Heart Disease to Explore the Genetic Pathways

Recruiting now · Not applicable

Conditions studied: Congenital Heart Defects

In brief

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

Key facts

Study ID

NCT02923440

Run by

Assistance Publique Hopitaux De Marseille

People needed

300

Starts

2017-01-17

Expected to finish

2028-03-01

Last updated by the study team

2023-03-13

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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

You may not qualify if…

• 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 it is running

• Assistance Publique Hopitaux de Marseille — Marseille, France (enrolling)

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