Establishing the Moorfields Glaucoma BioResource to predict glaucoma development and personalise care

Brief lay background

Glaucoma is the most common cause of incurable blindness globally. Many glaucoma patients continue to lose vision despite treatment. Given the chronic nature of the glaucoma, lifelong follow-up is generally required.

Patients with the condition form a large proportion of outpatient visits in the UK hospital eye service with over 1 million glaucoma-related visits per year. This burden is set to increase dramatically with the prevalence of glaucoma. Therefore, there is a pressing need to improve our glaucoma management strategy.

What problem/knowledge gap does it help address

In the UK Glaucoma Treatment Study (UKGTS), 75% of participants receiving placebo did not measurably progress in the two-year follow-up. This suggests some low-risk patients may not require treatment or close follow-up.

Conversely, 15% of patients receiving a drug still progressed, suggesting more intensive initial therapy would have been beneficial. If we were able to predict the risk of progression at first patient contact, this would reduce the risk of blindness in high-risk patients while reducing treatment-associated morbidity and costs in low-risk patients.

Primary open-angle glaucoma (POAG), the most common form of glaucoma, is highly heritable and there have been major recent advances in the identification of genetic factors which increase the risk of its development.

Evidence from small clinical studies suggests that some of these genetic factors may predict future progression of POAG. However, this remains an understudied area as few studies are investigating both genetic and clinical data at the same time.

Aim of the project

To establish a world-leading glaucoma bioresource of linked clinical and genetic data, allowing researchers to develop prediction models for personalised glaucoma treatment.

Key procedures/objectives

1. Link clinical data with genetic data to establish the Moorfields Glaucoma BioResource.
2. Develop genetic prediction models to identify POAG patients at highest risk of progression and blindness.
3. Develop genetic prediction models to predict response to common first-line glaucoma treatments to improve efficacy and enabling personalised management of treatment.

Potential impact on people with sight loss

The primary short-term outcome of this project is establishing the Moorfields Glaucoma BioResource and completing 12 months or recruitment. Importantly, this will be the springboard for further recruitment (at least a further 12 months).

While preliminary analyses can take place at the end of the 12-month project, definitive analyses are not expected until the sample size is adequate.  Researchers foresee this resource being frequently used by our research groups and collaborators to test the clinical relevance of novel genetic discoveries. This resource will be a powerful enabler of translation to clinical benefit of multiple streams of genetics research.