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NCT Number: NCT07265895

Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations

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.

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Key information

Conditions

Retinal Degenerations Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Macular Degeneration Retinal Degeneration Retinal Diseases Retinal Dystrophies Retinitis Pigmentosa Retinitis Pigmentosa (RP) Stargardt Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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.

Treatment and study plan

No Intervention: Observational Cohort

Other

no intervention, natural history study

Primary outcomes

  1. 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

  2. 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

  3. Total Macular volume

    Time frame: through study completion, an average of 1 year

    Measured in mm3 on OCT scans

  4. Centra Subfield Thickness

    Time frame: through study completion, an average of 1 year

    Measured in micron on OCT scans

  5. Preserved Ellipsoid zone area

    Time frame: through study completion, an average of 1 year

    Measured in mm2 on OCT scans

  6. Foveal Outer Nuclear Layer thickness

    Time frame: through study completion, an average of 1 year

    Measured in microns on OCT scans

  7. Ellipsoid zone loss area

    Time frame: through study completion, an average of 1 year

    Measured in mm2 on OCT scans

  8. Hyperautofluorescent (Robson- Holder) ring area

    Time frame: through study completion, an average of 1 year

    Measured in mm2 on FAF images

  9. Dereased Autofluorescence area

    Time frame: through study completion, an average of 1 year

    Measured in mm2 on Fundus autofluorescence images

Study contacts

Contact information is provided by the study sponsor or research team.

Lorenzo Bianco, MD

CONTACT

[email protected]

0039 0226433545 ext. MD

Maurizio Battaglia Parodi, MD

CONTACT

[email protected]

00390226433545

Sponsors and collaborators

Lead sponsor

IRCCS San Raffaele

Other

Registry information

Official study title

Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations, Monocentric Retrospective Observational Study

Acronym: IRDs-OSR

Important dates

Study start
2026
Primary completion
2028
Study completion
2028
First posted
Dec 5, 2025
Registry last updated
Dec 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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