Inherited retinal degenerations Eye Diseases
Conditions
Interventions
Once informed written consent has been obtained and all the questions answered, a blood sample will be taken from the participants by either a clinician or a research nurse in the Oxford Eye Hospital.
Sponsors
University of Oxford
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Participant is willing and able to give informed consent for participation in the study 2. Male or female, aged 18 years or over 3. A clinical diagnosis of inherited retinal disease with a genetically confirmed mutation 4. All volunteers should be in good health apart from any specific ocular disease
Exclusion criteria
Exclusion criteria: 1. The participant may not enter the study if they have an active infectious disease or if they have impaired wound healing (tested as part of the routine care) 2. Pregnant women
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Expression level and function of the disease-causing proteins in retinal organoids or retinal cell types derived from patients’ iPSC, measured using western blot analysis, immunohistochemistry, proximity ligation assay or electrophysiology at a single timepoint | — |
Secondary
| Measure | Time frame |
|---|---|
| Expression and functional assays of the target gene for genetic or cell therapies in retinal organoids or retinal cell types derived from patients’ iPSC, measured using western blot analysis, immunohistochemistry, proximity ligation assay or electrophysiology at a single timepoint | — |
Countries
England, United Kingdom
Outcome results
None listed