MR461 - A long term follow-up study of Aperts Syndrome

Data-sharing agreement from NHS England Data Uses Register. Evidence status: source reported.

Organisation: UNIVERSITY OF OXFORD
Published: 2026-09-18
Source reference: DARS-NIC-148106-PP9LS-v5.3
Jurisdiction: England
Licence: Open Government Licence v3.0, subject to NHS England terms and exclusions

Register reference: DARS-NIC-148106-PP9LS-v5.3
Applicant type: Academic
Data controllers: UNIVERSITY OF OXFORD
Agreement period: 2026-09-18 to 2028-09-28
For commercial purposes (as marked in the register): No
Release files listed by NHS England: 0

Data approved

MRIS - Cause of Death Report
MRIS - Cohort Event Notification Report
MRIS - Flagging Current Status Report

Objective, as published

The Data will be used for the purpose of a research project: a long-term follow-up study of individuals with Apert Syndrome. Data were collected for this study from 1994 to 2013, from which time no further data have been collected. The original data processing finished in 2015, when information on ages at event (death, cause of death, still living on 08/05/2013), with all identifiers removed, were provided to a statistical epidemiologist substantively employed by the University of Oxford. The findings (now in aggregated form) have been ready for publication since 2015 but this was delayed pending clarification of the legal basis for retaining the data. Over the 10 years that have elapsed since the original data processing in 2015, statistical methodologies have improved. On fresh review of the 2015 manuscript, it has become evident that estimates for standardised mortality ratios could now be substantially improved using better statistical methods. The type of results reported would not change, but improved estimates may be of correspondingly greater value – scientifically, clinically, and for patients with Apert syndrome – in improving our understanding of how the condition affects mortality. After the additional data processing, the manuscript would be modified to include the improved estimates of confidence limits of the standardised mortality ratios. This Agreement permits the release of the manuscript for publication, and the processing of the data for the purpose of se…

Expected benefits, as published

It is expected that this will improve knowledge of long-term prognosis of Apert syndrome, and causes of mortality, in adulthood. This will assist health professionals in providing better quality, evidence-based information to patients with Apert syndrome and their parents. Improved medical knowledge about this rare condition represents a public good. The peer-reviewed publication will provide the objective data supporting the broad conclusions. The Headlines article will make these data known to the patient/parent constituent groups. The benefits anticipated are two-fold: (i) Psychological: Apert syndrome is a serious disorder providing many challenges for affected children and their parents. It will be very reassuring for families to know that being affected by Apert syndrome does not in…

Benefits reported by the applicant

All further processing of the data has been completed and the work has now been formally published. This will help increase awareness of the new findings amongst those affected by the condition, and their relatives.

This is the applicant's own account; OpenHDI has not verified it.

Source: https://digital.nhs.uk/services/data-access-request-service-dars/data-uses-register. Captured 2026-11-05.

Limitations: Data-sharing agreement as published in NHS England's Data Uses Register. An agreement permits access; actual data releases are listed separately. Expected and yielded benefits are as reported by the applicant and have not been independently verified. Long text fields can be cut off in NHS England's spreadsheet export at Excel's 32,767-character cell limit.