NCT07265895Not yet recruiting
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations, Monocentric Retrospective Observational Study
Source: ClinicalTrials.gov · Last updated 5 Dec 2025
Brief summary (registry, in English)
Inherited Retinal Diseases (IRDs) are a heterogeneous group of genetically based degenerative retinal disorders, representing a major cause of visual impairment and blindness in working-age adults. Despite the approval of the first gene therapy for RPE65-related IRD (voretigene neparvovec) in 2017, most IRDs remain untreatable, though many gene therapies are in development. Effective trial design and therapy development require a deep understanding of disease natural history and genotype-phenotype correlations. Over 270 IRD-associated genes are known (e.g., ABCA4, USH2A, RPGR, PRPH2, BEST1), each linked to distinct phenotypes and clinical progression. This retrospective study analyzes clinical, functional, and imaging data (Optical Coherence Tomography, Fundus Autofluorescence, Microperimetry) from a large, genetically characterized IRD cohort at the IRCCS Ospedale San Raffaele up to December 31, 2025. The aims are to describe natural history, define genotype-phenotype relationships, and identify structural and functional outcome measures useful for future clinical trial endpoints, supporting personalized prognosis and trial design.
- Status (registry)
- Not yet recruiting
- Study type
- Observational
- Enrollment
- 200 (estimated)
- First submitted
- 18 Nov 2025
- Start date
- 1 Jan 2026
- Primary completion date
- 31 Dec 2028
- Lead sponsor
- IRCCS San Raffaele
- Diseases
- Retinitis pigmentosa
- NCT number
- NCT07265895
What you commit to
- Study type: Observational
- Planned participants: 200
- From 1 Jan 2026 to the primary completion date, 31 Dec 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Affected by other retinal or optic nerve conditions potentially affecting analyses (diabetic retinopathy, glaucoma).
Lab values
- History of retinotoxic medications (i.e., hydroxychloroquine, pentosan polysulfate sodium, tamoxifen, ritonavir, didanosine, MEK inhibitors) intake.
Other
- Unclear genetic diagnosis.
- Incomplete or inadequate ophthalmological and imaging tests.
Who the study is looking for
- Participant completed at least one ophthalmological and retinal imaging examination at our center.
- Clinically diagnosed with IRD, as per familiy history, clinical signs or symptoms, retinal imaging findings.
- Definitive genetic diagnosis of IRD with adequate molecular test
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| IRCCS Ospedale San Raffaele Coordinator of this site? Confirm its status | Milan | Italy | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.