Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorIRCCS San Raffaele
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
Affected by other retinal or optic nerve conditions potentially affecting analyses (diabetic retinopathy, glaucoma).
History of retinotoxic medications (i.e., hydroxychloroquine, pentosan polysulfate sodium, tamoxifen, ritonavir, didanosine, MEK inhibitors) intake.
Unclear genetic diagnosis.
Incomplete or inadequate ophthalmological and imaging tests.
Trial population
Patients affected by IRDs genetically confirmed
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
No Intervention: Observational Cohort
Other interventionno intervention, natural history study
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Best-corrected Visual Acuity
Measured on measured Early Treatment Diabetic Retinopathy Study (ETDRS) charts and recorded in logMAR units
Time frame
through study completion, an average of 1 year2
Macular threshold sensitivity
Measured in decibels using fundus- tracked MP (e.g., MAIA device) across a standard grid of 68 central loci under standardized mesopic conditions. Sensitivity deviation from age-matched normative values will also be computed
Time frame
through study completion, an average of 1 year3
Total Macular volume
Measured in mm3 on OCT scans
Time frame
through study completion, an average of 1 year4
Centra Subfield Thickness
Measured in micron on OCT scans
Time frame
through study completion, an average of 1 yearSponsors and contacts
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Source ClinicalTrials.gov
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