Retinal organoids for the study of inherited retinal diseases

Not Applicable

• Conditions: Inherited retinal degenerations; Eye Diseases

• Registration Number: ISRCTN12295348
• Lead Sponsor: niversity of Oxford

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2022-03-21
• Last Update Posted: 20 June 2022
• Study Completion: 2025-03-31

Recruitment & Eligibility

• Status: Ongoing
• Sex: All
• Target Recruitment: 60

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

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

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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