Characterisation of RPGR-related IRD

  • Research type

    Research Database

  • IRAS ID

    351906

  • Contact name

    Michel Michaelides

  • Contact email

    michel.michaelides@ucl.ac.uk

  • Research summary

    RGPR-related IRD in the UK: Moorfields Eye Hospital

  • REC name

    East Midlands - Derby Research Ethics Committee

  • REC reference

    25/EM/0003

  • Date of REC Opinion

    4 Feb 2025

  • REC opinion

    Further Information Favourable Opinion

  • Data collection arrangements

    Clinical and imaging data from Moorfields Eye Hospital will be reviewed to locate and characterise all patients with RPGR-related IRD. A research dataset will be extracted from the Moorfields Eye Hospital electronic health/medical records for analysis, and pseudo-anonymised afterwards. Any patients who have opted out of having their data shared through the NHS England National Data Opt Out will be removed from the dataset and excluded from the study. The number of patients who have opted out in this way will be recorded.

    A complete list of the variables which will be extracted is enclosed with this application. This list includes special category data, including ethnicity, genetic data, and data concerning a person's health. The dataset used in this study will be pseudonymised, where a log of any identifiable data will be kept separate from the database, this will act as a key, meaning individual patients’ data will be coded using a unique identifier in the database and they will not be directly identified. The funder, Johnson & Johnson, will not receive any patient-level data: they will only receive anonymised and aggregated analysed data in the form of a report produced by Moorfields Eye Hospital.

    A separate dataset will also be created for patients with RPE65-related LCA, only including the number of patients. This is so the size of the following populations can be estimated:

    RPE65-related LCA
    RPGR-related rod-cone dystrophy
    RPGR-related cone-rod dystrophy
    RPGR-related cone dystrophy
    RPGR-related sector RP
    RPGR-related LCA
    RPGR-related macular dystrophy

    This data set will be processed in the same way. The data will be accessed by the direct care team and pseudonymised, and only the analysed, anonymised data will be shared with Johnson & Johnson.

  • Research programme

    On 25th November 2024, Initiate Consultancy conducted a meeting on behalf of Moorfields Eye Hospital and J&J, with 5 UK participants with visual impairment related to RP (n=3), choroideremia (n=1), and Bardet-Biedl syndrome (n=1). These participants were identified independently by Retina UK, a charity. The patients were presented with an outline of the methodology of the study, and asked to provide their feedback, particularly with regards to how patient data will be managed and safeguarded. The meeting was chaired by Andrew Mumford, the CEO of Initiate Consultancy, who has experience in caregiving for a person with visual impairment. All materials were reviewed by representatives of Retina UK to ensure they were accessible for the visually impaired patient representatives. During the meeting itself, all slides were audibly dictated to ensure the material presented was accessible to all attendees, regardless of their level of visual impairment. There was overall agreement that the purpose of the study was clear, and that the approach presented in the protocol was appropriate. The panel agreed that they would be happy for Moorfields to use their data and/or that of other patients in the way outlined.

  • Research database title

    RGPR-related IRD in the UK: Moorfields Eye Hospital

  • Establishment organisation

    Moorfields Eye Hospital NHS Foundation Trust

  • Establishment organisation address

    NIHR Moorfields Clinical Research Facility (CRF)

    162 City Road

    London

    EC1V 2PD