Access and validation

Governance details

Documents or webpages that describe the overall governance of the data source and processes and procedures for data capture and management, data quality check and validation results (governing data access or utilisation for research purposes).

Biospecimen access

Are biospecimens available in the data source (e.g., tissue samples)?

Yes

Biospecimen access conditions

Availability and accessibility depends on the source registry

Access to subject details

Can individual patients/practitioners/practices included in the data source be contacted?

No

Description of data collection

Reference Centers for specific rare diseases provide data to the registries of the ERN (see #31). Data of these registries is standardized and made FAIR, and made available for access through the virtual platform.
Event triggering registration

Event triggering registration of a person in the data source

Disease diagnosis

Event triggering de-registration of a person in the data source

Loss to follow up
Other

Event triggering de-registration of a person in the data source, other

Consent retraction

Event triggering creation of a record in the data source

Currently via a collaborative onboarding process. ERNs propose the enrolment of patients in the registry whenever diagnostic is established
Data source linkage

Linkage

Is the data source described created by the linkage of other data sources (prelinked data source) and/or can the data source be linked to other data source on an ad-hoc basis?

Yes

Linkage description, pre-linked

See https://specs.fairdatapoint.org/
https://github.com/ejp-rd-vp/resource-metadata-schema
1. Metadata in RDF conform to the W3C-recommended DCAT model (currently version 2.0)
2. A discovery API conform to the GA4GH Beacon-2 framework schema and API
3. Data element metadata conform to an ontology-based common data element model (https://github.com/CARE-SM/CARE-Semantic-Model)

Linked data source 1

Pre linked

Is the data source described created by the linkage of other data sources?

Yes

Data source, other

Each linked data source provides its name through FAIR metadata: resources are 'linked' via a URI, referencing a locally deployed metadata provisioning service that gives access through http to metadata defined in terms of the Data Catalog Vocabulary and extensions thereof, conform the FAIR Data Point specifications (https://specs.fairdatapoint.org/)
Data management specifications that apply for the data source

Informed consent for use of data for research

Waiver

Possibility of data validation

Can validity of the data in the data source be verified (e.g., access to original medical charts)?

Yes

Data source preservation

Are records preserved in the data source indefinitely?

No

Approval for publication

Is an approval needed for publishing the results of a study using the data source?

No
Common Data Model (CDM) mapping

CDM mapping

Has the data source been converted (ETL-ed) to a common data model?

Yes

CDM Mappings

CDM name (other)

Clinical And Registry Entries Semantic Model (CARE-SM)

Data source ETL specifications (link)

Data source ETL CDM version

4.5.1

Data source ETL status

In progress