An observational study in Inherited Retinal Degeneration and Retinitis Pigmentosa, sponsored by Jaeb Center for Health Research. Recruiting at 36 sites in 14 countries. Open to participants aged 4 Years and older. Per ClinicalTrials.gov, last updated 2026-10-29.
Sponsored by Jaeb Center for Health Research · Observational
This is an international, multicenter study with two components:
Registry
Natural History Study
Registry Objectives
Natural History Study Objectives
This study includes multiple phases.
Screening Phase
The patient's current genetic report will be reviewed. Genetic testing will not be performed in this study. A prior conclusive genetic test will be assessed for screening analysis. Having at least one gene on the RD Rare Gene List meets one of the eligible Genetic Screening Criteria and other eligibility criteria can be evaluated based on medical history.
Genetic Screening Phase:
Genetic reports for participants enrolled into the genetic screening phase will be uploaded to study website for review and confirmation by Central Genetics Auditor (CGA) as meeting Genetic Screening Criteria.Participants confirmed as meeting those criteria will be considered enrolled into the Registry.
Registry Phase:
The flow of participants who are enrolled into the Registry depends on whether their causal gene is designated as a Natural History Study (NHS) Target Gene. If they are not Designated as NHS Target Gene, they will receive annual phone calls up to 48 months from the Registry/Screening visit or until the gene is designated as NHS Target Gene. If they are Designated as NHS Target Gene participants will be considered pending enrollment into the NHS.
The Registry will establish genetically and clinically well-characterized cohorts of patients across hundreds of genetic variants associated with retinal dystrophy (RD). Characterization of these patients will accelerate eligibility screening for the Natural History Study, provide cross-sectional data on phenotype-genotype associations, and contribute to our knowledge of pathogenicity of these rare disease-causing variants.
Participants pending enrollment will return to the clinic for the NHS Enrollment/Baseline Visit and return to the clinic for follow-up visits.
The Natural History Study will accelerate the identification and development of sensitive, reliable outcome measures for clinical trials, which will facilitate development of treatments for retinal dystrophies due to disease-causing genetic variants. The expected impact of the Natural History Study is as follows:
278 studies on the registry are indexed under Retinitis Pigmentosa; 72 are open to participants now.
This study's planned enrollment of 1,500 is above the median of 52 across 87 observational studies indexed under Retinitis Pigmentosa.
Browse Retinitis Pigmentosa studies →Jaeb Center for Health Research is the lead sponsor of 129 studies on the registry; 16 are open to participants now.
Of its 17 completed or terminated interventional studies of FDA-regulated products, 15 (88%) have results posted.
Counted across the registry records on this site, refreshed daily.
The study population includes patients with gene-related retinal degeneration. The universal registry is open to rare RD genes, to cross-sectionally characterize patients within rare RD genes (mild, moderate, and severe vision loss), so they are ready to be enrolled into a subsequent universal longitudinal natural history study as their gene is selected.
Inclusion Criteria: Participants must meet all the following inclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase:
Inheritance Pattern is Recessive and has at least 2 disease-causing variants which are homozygous or heterozygous in trans
OR
Inheritance Pattern is Recessive and has 2 disease-causing variants with unknown phase and meets all the following additional informatic criteria that is consistent with likely segregation in trans:
OR
Inheritance Pattern is Dominant, X-linked, or Mitochondrial and has at least 1 disease-causing variant
Both eyes must meet the following criteria at the Registry/Screening Visit to enroll into the genetic screening phase:
Exclusion Criteria:
Participants must not meet any of the following exclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase:
1. History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy including amiodarone, chloroquine, deferoxamine, hydroxychloroquine, pentosan polysulfate, tamoxifen, and deferoxamine Note: Since this is an observational study, pregnant women will not be specifically excluded from participation. However, minors that are pregnant shall be precluded from participation until they become the age of majority.
Ocular Exclusion Criteria:
If either eye has any of the following ocular exclusion criteria at the Registry/Screening Visit, then the participant is not eligible to enroll into the genetic screening phase:
The following medications and treatments are prohibited as they can affect progression of retinitis pigmentosa (RP). The participant must not have received the following treatments:
Any use of ocular stem cell or gene therapy Any treatment with ocriplasmin Treatment with Ozurdex (dexamethasone), Iluvien, or Yutiq (fluocinolone acetonide) intravitreal implant
Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Registry/Screening Visit date)
Treatment with any other product within five times the expected half-life of the product (time from last treatment date to Registry/Screening Visit date is at least 5 times the half-life of the given product)
Participants ages ≥ 4 years and \< 8 years old will be designated as the Younger Age Cohort. * Participants in this cohort will not be assigned a Vision Cohort. * Registry/Screening Visit and Natural History Study Visits will have an abbreviated testing schedule, detailed in the Schedule of Study Visits and Procedures table.
Participants who are aged ≥ 8 years old will be designated into a Vision Cohort based on data in the better eye, at the Registry/Screening Visit. Criteria that must be met in the better eye\* at the Registry/Screening Visit: visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better) and visual field\*\* diameter 10 degrees or more in every meridian of the central field
Participants who are aged ≥ 8 years old will be designated into a Vision Cohort based on data in the better eye, at the Registry/Screening Visit. Criteria that must be met in the better eye\* at the Registry/Screening Visit: visual acuity ETDRS letter score of 19-53 (approximate Snellen equivalent 20/100 to 20/400) or visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better) and visual field\*\* diameter less than 10 degrees in any meridian of the central field
Participants who are aged ≥ 8 years old will be designated into a Vision Cohort based on data in the better eye, at the Registry/Screening Visit. Criteria that must be met in the better eye\* at the Registry/Screening Visit: visual acuity ETDRS letter score of 18 or less (approximate Snellen equivalent 20/500 or worse)
Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV])
Measured by Static Perimetry (SP) using Octopus 900 Pro
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change Using Early Treatment of Diabetic Retinopathy Study (ETDRS) / HOTV Best Corrected Visual Acuity (BCVA) letter score
Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change Using Low visual acuity test - for participants unable to see ETDRS letters
Measured by Berkeley Rudimentary Vision Test (BRVT) for Low Visual Acuity
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change Using ETDRS/HOTV best corrected low luminance visual acuity letter score
Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change in Mean retinal sensitivity
Measured by Fundus guided Microperimetry (MP) using MAIA
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change in Contrast sensitivity function
Measured by Contrast sensitivity CSV-1000E chart
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change in Retinal function using amplitudes and timing in response to rod- and cone-specific stimuli
Measured by Full-field Electroretinogram (ffERG) Diagnosys Espion
Time frame: Baseline and at study completion (4 years)
Functional Outcome: Characterize Change in Full-field retinal sensitivity
Measured by Full-field stimulus threshold (FST) testing to blue, white, and red stimuli using Diagnosys Espion
Time frame: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change in Color vision function
Measured by Color vision testing using Lanthony D15
Time frame: Baseline and every year until study completion (4 years)
Structural Outcome: Characterize Change in Ellipsoid zone (EZ) area; outer nuclear layer and ganglion cell layer thicknesses
Measured by Spectral Domain Optical Coherence Tomography (SD-OCT) using Heidelberg Spectralis
Time frame: Baseline and every year until study completion (4 years)
Structural Outcome: Characterize Change Using Qualitative and quantitative assessments of autofluorescence pattern
Measured by Fundus Autofluorescence (FAF) using Optos
Time frame: Baseline and every year until study completion (4 years)
Plan to share: Yes — A de-identified database is placed in the public domain on the FFB/Jaeb public website after the completion of each protocol and publication of the manuscript.
Supporting information: Study protocol, Informed consent form
Time frame: After manuscript is published
Access criteria: Users accessing data must enter an email address
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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