Development of a patient reported outcome measure (PROM) for patients with inherited optic neuropathy (ION)

Status: Open to recruitment

Background

Inherited optic neuropathies (IONs) are a group of genetic disorders that cause progressive optic nerve degeneration and irreversible visual loss. Autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common IONs. Unfortunately, visual prognosis is poor, with the majority of individuals eventually fulfilling the legal requirement for blind registration.

Patient reported outcome measures (PROMs) are questionnaires that can be used to measure the impact of illness, quality of life and treatment from the patient’s perspective. It is known that individuals affected by LHON and DOA experience a high burden of psychological illness. There is a need to develop measures that are specific to individuals with IONs to capture the impact that their disease has on their quality of life.

Objectives

The aim of this study is to develop and test 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 would like to do this with the help of individuals living with LHON and DOA.

We hope to use this questionnaire in future studies, for example in better understanding the course of LHON and DOA, or in preparation for clinical trials.

Who can take part?

Individuals (aged 16 years old and above) with a genetic diagnosis of:

  • LHON due to one of the three primary mutations (G11778A, T14484C or G3460A)
  • DOA due to an OPA1 gene mutation

We are interested in individuals who are affected by symptoms of their condition.

What is involved?

  • We will ask participants to help us develop and test a new questionnaire. In order to keep time commitment to a minimum, we have designed the study so that all of it can be carried out at home.
  • Participants may be invited to a one-hour interview by telephone or videoconferencing (on Zoom) to discuss how their condition impacts their day-to-day function and quality of life. We may also ask participants to provide feedback on the questions that we have developed for the new questionnaire.
  • Alternatively, we may ask participants with a diagnosis of DOA or LHON to help test the questionnaire.
    • The questionnaire is able to be accessed here and will take approximately 10 minutes to complete.

Study Team

Benson Chen, Patrick Yu Wai Man

Collaborators

Stephanie Archer (Cambridge), Valerija Tadić (Greenwich), Mike Horton (Leeds), Tasanee Braithwaite (Kings), Konrad Pesudovs (Sydney), Robert Pitceathley (UCL)

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