Inherited eye disease
GPD: Genotype, Phenotype and Dietary correlation in Retinal Degeneration.
Eye condition/Study type:
Patients identified with a genetic risk factor for retinal degeneration
Principal Investigator:
Miss Samantha de Silva
Retinal degeneration significantly affects quality of life. Age-related macular degeneration (AMD), a leading cause of vision impairment worldwide, involves damage to the retina's central part, the macula, which is essential for central vision and tasks like reading and recognising faces. Treatment exists for "wet" AMD, where abnormal blood vessels grow under the retina, but there’s no established treatment for "dry" AMD, leading to gradual vision loss. Retinal degeneration's causes are not fully understood but likely involve genetic, dietary, and environmental factors, such as smoking. This study aims to examine the relationship between genetic, clinical, and lifestyle factors in retinal degeneration patients.
https://studies.ouh.nhs.uk/project_detail/9383/
The study team will extend an invitation to participate if you are identified as a potential candidate and have consented to be contacted. Contact ERGO@ouh.nhs.uk if you have any questions.
Perceive Study: A Post-Authorization, Multicentre, Multinational, Longitudinal, Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec.
Eye condition/Study type:
Patients that have or are planning to receive Luxturna® (Voretigene Neparvovec)
Principal Investigator:
Professor. Dominik Fischer
This is a global non-interventional registry-based, post-authorisation study (PASS) in paediatric and adult patients who have received Luxturna® sub-retinal injections in a real-world setting. Patients will be treated according to the local prescribing information and routine medical practice. The study will collect all Adverse Events and Serious Adverse Events including Adverse Events of Special Interest, information about pregnancy occurrence and outcomes, and ophthalmic examination results.
Currently recruiting. If interested, please contact via email ERGO@ouh.nhs.uk
Investigation of protein defects in inherited retinal degenerations
Eye condition/Study type:
Inherited Retinal Degenerations
Principal Investigator:
Professor Robert MacLaren
This research study will investigate defective proteins in fibroblast cells derived from skin biopsies of patients with inherited retinal degenerations. Participants will be selected based on their clinical history and genetic testing. A skin biopsy and blood sample will be taken, and cells will be cultured for analysis. DNA from the blood will confirm gene mutations responsible for retinal degeneration. The samples will be stored for up to 10 years for further studies, after which they will be disposed of following ethical guidelines.
https://studies.ouh.nhs.uk/project_detail/3344/
Contact ERGO@ouh.nhs.uk if you have any questions.
Modelling and rescue of inherited retinal diseases using induced pluripotent stem cell (iPSC)-derived retinal cells and organoids
Eye condition/Study type:
Inherited Retinal Degeneration
Principal Investigator:
Professor. Robert MacLaren
The retina, a light-sensitive nerve layer at the back of the eye, converts light into electrical signals sent to the brain via the optic nerve. Inherited retinal diseases (IRDs) involve retinal degeneration linked to genetic mutations, affecting individuals of all ages and often leading to progressive vision loss or blindness. The severity, lack of treatments, and complexity of IRDs underscore the need for research. Retinal gene therapy shows promise, as seen with FDA and NICE approval of Luxturna for Leber congenital amaurosis. This study will generate retinal cells and organoids from patient blood samples to explore treatments such as gene therapy, cell therapy, and gene editing.
https://studies.ouh.nhs.uk/project_detail/8495/
Currently recruiting. If interested, please contact via email ERGO@ouh.nhs.uk
Eye2Gene: Accelerating the diagnosis of inherited retinal diseases
Eye condition/Study type:
Inherited retinal disease (IRDs)
Principal Investigator:
Professor Susan Downes
Inherited retinal diseases (IRDs) are a major cause of visual impairment among working-age adults. Over 300 gene mutations are linked to IRDs, and genetic diagnosis—identifying the affected gene—is crucial for patient care. Currently, diagnosis is slow, costly, and limited: it takes over five years and costs £10,000 per patient, with more than 40% remaining undiagnosed (>10,000 individuals). This study aims to improve IRD diagnosis with Eye2Gene, an AI algorithm predicting the causative gene from retinal scans, achieving 88% top 5 accuracy. The project will validate Eye2Gene with external data and enhance its explainability by identifying IRD-specific retinal abnormalities.
https://studies.ouh.nhs.uk/project_detail/8724/
Contact ERGO@ouh.nhs.uk if you have any questions.
REGENT Study: Retinal Gene Therapy Immune Response – a clinical research study on the incidence and severity of gene therapy associated uveitis [GTAU] and associated predictive factors.
Eye condition/Study type:
Gene therapy associated uveitis
Principal Investigator:
Professor Dominik Fischer
This project aims to study immune responses, specifically targeting gene therapy-associated uveitis (GTAU), in patients receiving retinal gene therapy with adeno-associated virus (AAV). By analysing vitreous and blood samples, the research will identify biomarkers of immune response, inflammation, and adaptive immunity to predict and monitor the risk and severity of GTAU. Understanding these immune mechanisms will help develop strategies to reduce immune-related complications, improving the effectiveness of gene therapy in treating retinal diseases.
Closed to recruitment / in follow up