What is this study about?

The aim of this study is to develop a questionnaire for individuals with an inherited optic neuropathy, to report their experience of living with their condition and to assess their quality of life. We want to understand what it’s like to live with Leber Hereditary Optic Neuropathy (LHON) or Dominant Optic Atrophy (DOA), and which aspects of quality of life can be affected. Using this information, we wish to develop and test a new questionnaire that can be used in future studies, for example in better understanding the course of LHON and DOA, or in preparation for clinical trials.

As part of this study, data from interviews will be collected to support the development of a patient reported outcome measure (PROM) questionnaire, which will then be tested with the help of individuals living with LHON and DOA.

Who can take part? 

Individuals with a genetic diagnosis of LHON or DOA, aged 16 years and over, and with symptoms of their condition will be invited to take part in the study.

What’s involved in taking part?

As a participant in this study, you will be asked to help us develop and test a new questionnaire. We will collect some data about your diagnosis and general information about yourself. Depending on the information you provide, we may invite you to participate in a one-hour interview by telephone or videoconferencing (on Zoom) to discuss how your condition impacts your day-to-day function and quality of life, or we may ask you to provide feedback on the questions that we have written for the new questionnaire.

If we do not invite you to participate in an interview, we will ask you to help us test the questionnaire. You will be sent the questionnaire by email or post to complete. We can help you complete the questionnaire by telephone if you prefer. We may ask you to complete more than one type of questionnaire.

In order to keep your time commitment to a minimum, we have designed the study so that all of it can be carried out at home. However, if you cannot complete it at home and we invite you to come in for a research study visit (outside of your normal clinic appointments), we will reimburse your travel expenses for that visit.

Are there any risks?

Discussing your experience of living with an inherited optic neuropathy may be something that you find stressful or emotionally distressing. We have developed our interview format to be sensitive to these issues, and all interviews will be conducted by researchers who are experienced in discussing sensitive topics. During the interviews we will regularly check with you that you are happy to continue.

Completion of the questionnaire is unlikely to have any associated risks.

Who will benefit?

There is no guarantee that you will benefit directly from taking part in this study. However, your participation in this study will enable doctors to gain a better understanding of what it is like to live with an inherited optic neuropathy, and you will be contributing to the development of a questionnaire that can be used by other researchers to study inherited optic neuropathies.

Who is running the study?

The study is led by Dr Patrick Yu Wai Man, an eye specialist who carries out research into inherited optic neuropathies at the University of Cambridge and Addenbrooke’s Hospital.

How do I find out more?

If you think you might be eligible and are interested in taking part in this research, or would like any further information, please contact the study team directly:

Email: [email protected]                         

Tel: 01223 331506