Retinal DegenerationsIRDs-OSRNCT07265895
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
An observational study of Retinal Degenerations and Retinitis Pigmentosa (RP), run by IRCCS San Raffaele at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Retinal Degenerations, Retinitis Pigmentosa (RP), Stargardt Disease
- How many people
- 200 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jan 2026to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients affected by IRDs genetically confirmed
Who may be able to join
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site
IRCCS Ospedale San Raffaele
Milan, Italy, 20132
Adelaide Pina, +390226433545, pina.adelaide@hsr.it
About this study
Official title: Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations, Monocentric Retrospective Observational Study
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.
- Being tested
- No Intervention: Observational Cohort
- Medical subject headings
- Retinal Degeneration, Retinitis Pigmentosa, Stargardt Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No Intervention: Observational CohortOther
no intervention, natural history study
What is being measured
The primary outcome is the main question the study is designed to answer.
Best-corrected Visual Acuity
Measured on measured Early Treatment Diabetic Retinopathy Study (ETDRS) charts and recorded in logMAR units
Measured: 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
Measured: through study completion, an average of 1 year
Total Macular volume
Measured in mm3 on OCT scans
Measured: through study completion, an average of 1 year
Centra Subfield Thickness
Measured in micron on OCT scans
Measured: through study completion, an average of 1 year
Preserved Ellipsoid zone area
Measured in mm2 on OCT scans
Measured: through study completion, an average of 1 year
Foveal Outer Nuclear Layer thickness
Measured in microns on OCT scans
Measured: through study completion, an average of 1 year
Ellipsoid zone loss area
Measured in mm2 on OCT scans
Measured: through study completion, an average of 1 year
Hyperautofluorescent (Robson- Holder) ring area
Measured in mm2 on FAF images
Measured: through study completion, an average of 1 year
Dereased Autofluorescence area
Measured in mm2 on Fundus autofluorescence images
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Dec 2025
- Study start1 Jan 2026 (estimated)
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinal DegenerationsStudies of the same condition, open and under way.
- More trials run by IRCCS San RaffaeleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Maurizio Battaglia Parodi, IRCCS San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07265895
- Sponsor's protocol ID
- IRDs-OSR
- Acronym
- IRDs-OSR
- Status last verified
- Dec 2025
- First submitted
- 18 Nov 2025
- Last updated
- 5 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: single center study
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations, Monocentric Retrospective Observational Study
- ClinicalTrials.gov ID
- NCT07265895
- Acronym / sponsor ID
- IRDs-OSR / IRDs-OSR
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- IRCCS San RaffaeleUniversity, hospital or other
- Study start
- 1 Jan 2026 (estimated)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 5 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients affected by IRDs genetically confirmed
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No Intervention: Observational Cohortno intervention, natural history study | Other | – |
Primary outcome
Best-corrected Visual Acuity
Time frame: through study completion, an average of 1 year
Measured on measured Early Treatment Diabetic Retinopathy Study (ETDRS) charts and recorded in logMAR units
Macular threshold sensitivity
Time frame: through study completion, an average of 1 year
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
Total Macular volume
Time frame: through study completion, an average of 1 year
Measured in mm3 on OCT scans
Centra Subfield Thickness
Time frame: through study completion, an average of 1 year
Measured in micron on OCT scans
Preserved Ellipsoid zone area
Time frame: through study completion, an average of 1 year
Measured in mm2 on OCT scans
Foveal Outer Nuclear Layer thickness
Time frame: through study completion, an average of 1 year
Measured in microns on OCT scans
Ellipsoid zone loss area
Time frame: through study completion, an average of 1 year
Measured in mm2 on OCT scans
Hyperautofluorescent (Robson- Holder) ring area
Time frame: through study completion, an average of 1 year
Measured in mm2 on FAF images
Dereased Autofluorescence area
Time frame: through study completion, an average of 1 year
Measured in mm2 on Fundus autofluorescence images
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Dec 2025.
- Individual participant dataSharing planned: No. single center study
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinal Degenerations and Retinitis Pigmentosa (RP), run by IRCCS San Raffaele at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 5 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Maurizio Battaglia Parodi, MD (00390226433545, battagliaparodi.maurizio@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Best-corrected Visual Acuity (time frame: through study completion, an average of 1 year). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Dec 2025.