Development of an ION-specific PROM
Research type
Research Study
Full title
Development of a patient-reported outcome measure (PROM) for inherited optic neuropathy (ION)
IRAS ID
295018
Contact name
Patrick Yu Wai Man
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Inherited optic neuropathies (IONs) are a group of genetic disorders that cause progressive vision loss. The two most common disorders, Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are leading causes of registrable blindness in young people. Treatment for both conditions is limited and focuses on supportive management. However, clinical trials investigating the benefit of gene therapy are in progress. These trials frequently use different measures of patients’ vision to determine the success of treatment. However, such measures may not accurately capture a patient’s experience of their condition or response to treatment, and specific patient-reported outcome measures (PROMs) are required.
The objective of this study is to develop a PROM questionnaire for individuals with an ION, to report their experience of living with their condition and to assess their quality of life (QoL). Several methods will be utilised, beginning with a systematic literature review to determine what is already known about the QoL of individuals with LHON and DOA, and how their QoL is assessed.
Individuals living in the UK, aged 16 years and over, with a genetically confirmed diagnosis of LHON or DOA will be invited to participate in the study. Interviews will be conducted remotely with 20 participants initially, to explore how their condition affects their QoL. Information obtained from the interviews and the literature review will be used to develop “items” (questions) that will eventually form the PROM. Interviews will then be conducted with another 15 participants to check that the items and response format are appropriate. The preliminary PROM will be trialled by 150 participants and the performance of the PROM will be analysed. After some final adjustments to the items, the final PROM will be trialled by another 150 participants and analysed again.REC name
Yorkshire & The Humber - Sheffield Research Ethics Committee
REC reference
21/YH/0098
Date of REC Opinion
13 May 2021
REC opinion
Favourable Opinion