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

NCT02923440 | Recruiting

• 2 other identifiers: 2016-A00958-432016-13
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Congenital Heart Defects

Outcome Measures

Primary Outcomes (1)

• number of patient with Congenital Heart Defects

  3years

Study Arms (1)

Congenital heart defects

EXPERIMENTAL

Biological: blood sample

Interventions

blood sample BIOLOGICAL

Congenital heart defects

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance Publique Hopitaux de Marseille

Marseille, 13354, France

RECRUITING

MeSH Terms

Conditions

Heart Defects, Congenital

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• catherine GEINDRE

  ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE

  STUDY DIRECTOR

Central Study Contacts

CAROLINE OVAERT

CONTACT

caroline.ovaert@ap-hm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 30, 2016
• First Posted: October 4, 2016
• Study Start: January 17, 2017
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: March 13, 2023

Record last verified: 2023-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)