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)?

No

Access to subject details

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

Yes

Description of data collection

Observational clinical data from regular patient care is entered into a web-based registry.
Event triggering registration

Event triggering registration of a person in the data source

Other

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

Enrollment by the treating health care provider. Patient has to be affected by target disease and sign an informed consent (parents/legal guardians in case of underage patients).

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

Death
Loss to follow up
Other

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

Patient withdrawing consent.

Event triggering creation of a record in the data source

Visist are created according to the regular follow-up of a patient as decided by the treating physician.
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, possible linkage

In case of E-HOD / U-IMD the process would be deterministic due to overlapping consortia with local ID code lists.

Linked data source 1

Pre linked

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

No

Data source, other

Data source could in principle be linked to other data sources, provided a linkage mechanism (e.g. Spider) exists and is legally and technically feasible. Data source can be merged with E-IMD (https://www.eimd-registry.org/) and U-IMD (https://u-imd-registry.org/). Other data sources would need further evaluation.

Linkage strategy

Deterministic

Linkage variable

Personal identifier.

Linkage completeness

Complete for the above mentioned.
Data management specifications that apply for the data source

Data source refresh

Yearly

Informed consent for use of data for research

Required for all studies

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

Data source preservation length

10 years

Approval for publication

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

Yes

Data source last refresh

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)

EU CDE

Data source ETL specifications (link)

CDM name (other)

HPO Codes

Data source ETL frequency

1,00 month

Data source ETL specifications (link)