About the project
Since 2003, the National Register for Congenital Heart Defects (NRAHF) has been one of the world’s largest Research Infrastructures in this field – containing data on around 60,000 patients and a biobank with over 10,000 samples. With its multicentre Research Infrastructure and under the governance of the DGPK (German Society for Paediatric Cardiology and Congenital Heart Defects), the DGK (German Society for Cardiology, Cardiovascular Research) and the DGTHG (German Society for Thoracic, Cardiac and Vascular Surgery), it has succeeded over the past 20 years in overcome fragmentation in the field of research into congenital heart defects, thereby optimising and operationalising patient-centred research.
Key points at a glance
To date, congenital heart defects and acquired cardiovascular diseases in minors have not been included in the NUM. The NRAHF-NUM project closes this gap: it establishes the conceptual and registry-related prerequisites for transferring the NRAHF’s data and biobank collections into the NUM’s Research Infrastructures in the long term and for collecting further data and samples via the NUM platforms in future.
The project aims to demonstrate, on a pilot basis, that it is possible to transfer an existing registry into the NUM, thereby enabling the NRAHF to serve as a reference model for other registries. In the long term, the project aims to create generic functionalities from which other NUM infrastructures and participating researchers can also benefit.
Congenital heart defects are the most common congenital malformation in humans. At the same time, the range of diagnoses (over 70 ICD-10 or 214 IPCC codes) within the field of heart defects is vast – some phenotypes are classified as rare diseases. This therefore requires lifelong, interdisciplinary and multicentre follow-up, as well as a robust, broad and at the same time in-depth data infrastructure.
Extensive legal, technical and organisational reviews are necessary for the transfer of existing data, sample and custodial structures into the NUM. In particular, research involving vulnerable groups (minors, families) poses specific challenges in terms of data protection and consent management.
The project is divided into a concept development phase (covering legal, technical and organisational aspects, as well as data and IT infrastructure) and the actual integration with the NUM platforms.
Key areas of focus:
- Transfer of the trust agency and consent management to NUM (with NUKLEUS)
- Migration of medical care data and adaptation to the MII core dataset / FHIR standard (with NUM-DIZ)
- Integration of exome and genome sequence data into the NUM’s Omics platform (with NUM-MB)
- Transfer of the multicentre biobank to the NUM infrastructure (with GBN / ZeBanC)
- Governance concept and FAIR principles for future NRAHF–NUM collaboration
- Patient-centred communication and PROMs collection via NUM platforms
- Early integration of sustainability and continuity to ensure the long-term operation of the registry infrastructure beyond the project duration
- National Register of Congenital Heart Defects
- Charité – University Medicine Berlin (ZeBanC)
- University Hospital Schleswig-Holstein (UKSH)
NUM Research Infrastructures:
- NUKLEUS – Clinical Epidemiology and Study Platform
- NUM-DIZ – Network of Data Integration Centres
- NUM Methods & Biosamples Hub
- GBN – German Biobank Network
- NUM4Rare – Registry Infrastructure for Rare Diseases
- NUM-SN – NUM Study Network
- FOSA-AG Patient Representation
Patient organisations:
- Federal Association of Young People and Adults with Congenital Heart Defects (JEMAH)
- Kohki Association for Families of Children and Young People with Heart Disease