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).
https://www.fshd-registry.org.uk/

Biospecimen access

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

Yes

Biospecimen access conditions

Not directly, but potential for local linkage with Newcastle biobank specimens if relevant consents in place.

Access to subject details

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

Yes

Description of data collection

Online patient-entered questionnaires. Annual reminders sent by email, alongside newsletters and other registry correspondence (e.g. clinical trial information). Genetic test information can only be inputted by nominated professional (e.g. consultant, genetic counsellor, registry manager) but patients can upload PDF of their report for analysis and data entry via a secure upload portal.
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

User self-registers via registry website

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

Death
Emigration
Loss to follow up
Other

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

Patient or user records logged as inactive if deceased, non-UK resident, LTFU with no active contact details, or if patients requests to be withdrawn.

Event triggering creation of a record in the data source

Registry user updates patient information. Automatic annual reminders are sent to patients and clinicians via email, one year after their last login.
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?

No

Linkage description, possible linkage

Not linked directly, but data can be compared with other registries collecting TREAT-NMD Core Dataset for FSHD.
Data management specifications that apply for the data source

Informed consent for use of data for research

Other

Informed consent, other

Patients consent to their de-identified data being used for research. The registry steering committee evaluate requests for data reports or trial recruitment support.

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?

Yes

Approval for publication

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

Yes
Common Data Model (CDM) mapping

CDM mapping

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

No