An observational study in Retinal Degenerations, Retinitis Pigmentosa (RP) and Stargardt Disease, sponsored by IRCCS San Raffaele. Not yet recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2025-12-05.
Sponsored by IRCCS San Raffaele · Observational
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.
99 studies on the registry are indexed under Retinal Degeneration; 21 are open to participants now.
This study's planned enrollment of 200 is above the median of 82 across 28 observational studies indexed under Retinal Degeneration.
Browse Retinal Degeneration studies →IRCCS San Raffaele is the lead sponsor of 443 studies on the registry; 234 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients affected by IRDs genetically confirmed
Exclusion Criteria:
no intervention, natural history study
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 year
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 year
Total Macular volume
Measured in mm3 on OCT scans
Time frame: through study completion, an average of 1 year
Centra Subfield Thickness
Measured in micron on OCT scans
Time frame: through study completion, an average of 1 year
Preserved Ellipsoid zone area
Measured in mm2 on OCT scans
Time frame: through study completion, an average of 1 year
Foveal Outer Nuclear Layer thickness
Measured in microns on OCT scans
Time frame: through study completion, an average of 1 year
Ellipsoid zone loss area
Measured in mm2 on OCT scans
Time frame: through study completion, an average of 1 year
Hyperautofluorescent (Robson- Holder) ring area
Measured in mm2 on FAF images
Time frame: through study completion, an average of 1 year
Dereased Autofluorescence area
Measured in mm2 on Fundus autofluorescence images
Time frame: through study completion, an average of 1 year
Plan to share: No — single center study
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in Dec 2025. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
IRCCS San Raffaele