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.
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.
ASTRA: A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene
Eye condition/Study type:
Inherited Retinal Degenerations
Principal Investigator:
Professor Robert MacLaren
This is a first-in-human study targeting participants with moderate or advanced Stargardt’s (STGD1) disease. Treatment is with an experimental gene therapy called SB-007, administered as a one-time subretinal injection into the study eye. Only one eye will be treated with SB-007.The study will be performed up to 11 clinic visits and the participant followed for 96 weeks post-surgery. Participants will be treated at one of three dose levels or placed in a control group (>18-year-olds only). The study will include an independent Data Safety Monitoring Board (DSMB) to monitor safety at each dose level before providing the green light to escalate. The primary endpoint will be the safety and tolerability of SB-007 through to Week 96. The study will also measure efficacy, with the key secondary endpoint measuring a change from baseline in lesion growth on imaging, comparing the eye treated with SB-007 and the untreated control eye at Week 96.
https://studies.ouh.nhs.uk/project_detail/11122/
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.
POLARIS (SB-SC-001): An Observational Human Study in Pediatric and Adult Subjects to Follow the Progression of Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (Polaris (SB-SC-001))
Eye condition/Study type:
Inherited Retinal Degenerations
Principal Investigator:
Professor Robert MacLaren
Research summary
This is a prospective, observational, non-interventional, multi-center, global clinical study of subjects with early to advanced stage STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene, confirmed genotypically by an accredited genotyping laboratory. The study will consist of 6 visits over a 96-week study period: Visit 1 (Screening Visit), Visit 2 (Week 16), Visit 3 (Week 32) Visit 4 (Week 48), Visit 5 (Week 72), and Visit 6 (Week 96). Subjects who discontinue the study early will complete an Early Termination Visit. After Week 96, ongoing observation may be continued with approval of the subject and Sponsor. Subjects must have at least one eligible eye to participate in the study, defined as an eye that meets all relevant inclusion/exclusion criteria. All ophthalmology assessments will be conducted in both eyes, regardless of eligibility. Subjects participating in this observational study will be able to participate in future interventional studies conducted by the Sponsor with SB-007 gene therapy as long as they meet the entry criteria for the future relevant study. SB-007 is a novel dual-AAV gene therapy investigational medicinal product under development for the treatment of STGD1.
IRAS number
339659
https://studies.ouh.nhs.uk/project_detail/10480/
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