Datasets

Datasets

The ERN eUROGEN platform will be built on the collection of core data set elements and domain-specific elements, combined with data from existing registries for specific rare uro-recto-genital diseases.  Thus the registry will comprise the following sets of data:

  1. The JRC common data set (CDE), defined by the EU RD Platform, has 16 data elements describing the general health status of patients. The CDE is common to all rare disease registries, the connecting point for all ERN databases, and ensures that individuals are uniquely identified and not duplicated in different rare disease registries.
  2. Uro-recto-genital pilot data sets initially consisting of six clinical questions (around 10 data elements) per disease area, to perform a clinical snapshot of the current practices in the EU. These Clinical Practice Snapshots were developed for the following disease areas: 5 posterior urethral valves, 1.7 anorectal malformations, 1.8 paediatric kidney transplantations, 2.1 complicated & pelvic floor disorders: AMS800 and 3.3 adrenal tumours. We are currently working on the Clinical Practice Snapshots for the other disease areas.
  3. In addition, the dataset will be expanded with additional data points (key performance and outcome indicators) defined by the experts of ERN eUROGEN’s three workstreams, relevant for all 114 rare uro-recto-genital diseases and complex conditions.
  4. Disease-specific modules will incorporate (in the future) the information already contained in the AGORA, SATURN, VENUS, and ARM-Net registries in a modular system to allow expansion with future registries or trials.

The data in the ERN eUROGEN Registry will be made Findable, Accessible, Interoperable, and Reusable for humans and computers (i.e., FAIR). To achieve this, ERN eUROGEN will work with Bruna Dos Santos Vieira, “FAIRification” Steward, European Joint Program on Rare Diseases (EJP-RD).

During the project period, the HCPs will add their cases while existing disease-specific registries will undergo a process of FAIRification to allow integration with ERN eUROGEN using the Common Data Elements. In the future, other national registries will be considered, and a patient portal will be created for surveys, e.g., on quality of life