Inherited Retinal DegenerationUni-RareNCT05589714
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
An observational study of Inherited Retinal Degeneration and Retinitis Pigmentosa, run by Jaeb Center for Health Research at 36 sites in 14 countries.
Trial summary
This is an international, multicenter study with two components: Registry A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection Enrollment is open to all genes on the RD Rare Gene List Natural History Study A prospective, standardized, longitudinal Natural History… Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Inherited Retinal Degeneration, Retinitis Pigmentosa
- How many people
- 1,500 participants
- Where
- 36 sitesin 14 countries
- Study dates
- 11 May 2023to 15 Dec 2030
- 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 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
None listed.
Who cannot join
- 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:
- Current vitreous hemorrhage
- Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging
Show all 15Show fewer
- History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit
- Current or any history of confirmed diagnosis of glaucoma (for example, but not limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)
- Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
- History or current evidence of ocular disease that, in the opinion of the Investigator, may confound assessment of visual function (for example, but not limited to, tractional or rhegmatogenous retinal detachment, any vitreoretinal surgery, retinal vascular occlusion, proliferative diabetic retinopathy)
- 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
- The following medications and treatments are excluded within the specified timeframe:
- 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)
Trial locations and contacts
36 sites in 14 countries. Contact the study team or a site near you to ask about taking part.
36 sites in 14 countries
United States19 sites, 19 recruiting
- Recruiting
University of Michigan, Kellogg Eye Center
Ann Arbor, Michigan, 48105
Abigail Fahim, MD, PhD, 734-615-8560, callieg@med.umich.edu
- Recruiting
Emory University, Emory Eye Center
Atlanta, Georgia, 30322
Nieraj Jain, MD, 404-778-4725, olga.ostretsova@emory.edu
- Recruiting
Johns Hopkins University, Wilmer Eye Institute
Baltimore, Maryland, 21236
Mandeep S. Singh, MD, PhD, 443-287-7912, Mfrey3@jhmi.edu
410-502-1231, sthom142@jhmi.edu
- Recruiting
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114
Rachel Huckfeldt, MD, PhD, 617-573-4401, fperez7@meei.harvard.edu
- Recruiting
Retina Foundation of the Southwest
Dallas, Texas, 75231
Mark Pennesi, PhD, 214-363-3911, kwebb@retinafoundation.org
Kaylie Jones
- Recruiting
Duke University, Duke Eye Center
Durham, North Carolina, 27705
Ramiro Maldonado, MD, 1-919-668-8333, natalia.cook@duke.edu
- Recruiting
Baylor College of Medicine, Alkek Eye Center
Houston, Texas, 77030
John T. Stout, MD, PhD, 713-798-2759, Isabella.Valli@bcm.edu
- Recruiting
University of Florida Health Jacksonville
Jacksonville, Florida, 32209
Sandeep Grover, MD, Ghulam.hamdani@jax.ufl.edu
- Recruiting
University of Arkansas, Jones Eye Institute
Little Rock, Arkansas, 72205
Sami Uwaydat, MD, 501-296-1156, schauhan@uams.edu
- Recruiting
USC Roski Eye Institute
Los Angeles, California, 90033
Hossein Ameri, MD, PhD, 323-442-6490, mariana.edwards@med.usc.edu
- Recruiting
University of Wisconsin Madison
Madison, Wisconsin, 53711
Kimberly Stepien, MD, 608-263-8783, nstangel@wisc.edu
- Recruiting
University of Miami, Bascom Palmer Eye Institute
Miami, Florida, 33136
Byron Lam, MD, (305) 243-0314, srt150@med.miami.edu
(786) 218-8363
- Recruiting
Medical College of Wisconsin Eye Institute
Milwaukee, Wisconsin, 53226
Thomas Connor, MD, 414-955-2001, psummer@mcw.edu
- Recruiting
University of Pennsylvania, Scheie Eye Institute
Philadelphia, Pennsylvania, 19104
Tomas Aleman, MD, 215-662-6396, Mariejel.weber@pennmedicine.upenn.edu
- Recruiting
UPMC Eye Center
Pittsburgh, Pennsylvania, 15213
Boris Rosin, MD, PhD, 412-642-1940, alabekm@upmc.edu
- Recruiting
Oregon Health & Science Univ., Casey Eye Institute
Portland, Oregon, 97239
Lesley Everett, MD, PhD, (503) 494-3370, faleolse@ohsu.edu
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55905
Brittni Scruggs, MD, PhD, 507-538-8119, Wernimont.Suzanne@mayo.edu
- Recruiting
University of Utah, John Moran Eye Center
Salt Lake City, Utah, 84132
Paul Bernstein, MD, PhD, 801-213-2034, u0740625@utah.edu
- Recruiting
University of California San Francisco
San Francisco, California, 94158
Jacque Duncan, MD, (415)502-5161, ErikaMae.Reyes@ucsf.edu
Canada3 sites, 3 recruiting
- Recruiting
University of Alberta and Alberta Health Services
Edmonton, Alberta
Matthew Benson, MD, FRCPC, 780 492 8869, ovstrial@ualberta.ca
- Recruiting
University of Toronto, Hospital for Sick Children
Toronto, Ontario, M5G 2L3
Elise Heon, MD, 416.813.7654 ext. 301511, sabahat.javaid@sickkids.ca
Sabahat Javaid
- Recruiting
University Health Network
Toronto, M5T 2S8
Brian Ballios, MD, PhD, 416-603-5800 ext. 3106, Zahra.Baghestani@uhn.ca
Brazil2 sites, 2 recruiting
- Recruiting
INRET Clínica e Centro de Pesquisa
Belo Horizonte, Minas Gerais, 30150-270
Fernanda Belga Ottoni Porto, MD, PhD, 55 31 32264882, fernandabop@gmail.com
- Recruiting
Instituto de Genética Ocular
São Paulo, São Paulo Province
Juliana Sallum, MD, PhD, 55 11 98346 ext. 3053, pesquisa@institutodegeneticaocular.com.br
Switzerland2 sites, 2 recruiting
- Recruiting
University Hospital Basel
Basel, Canton of Basel-City
Nicolas Feltgen, MD, 41 79 172 92 48, ursula.hall@usb.ch
- Recruiting
University Hospital Jules-Gonin
Lausanne, 1004
Hoai V. Tran, MD, +41 (0)21 626 8154, flavie.torrecillos@fa2.ch
Australia1 site, 1 recruiting
- Recruiting
Centre for Eye Research Australia
East Melbourne, Victoria
Alexis Ceecee Britten-Jones, PhD, 61 3 8344 3441, IRD@groups.unimelb.edu.au
Belgium1 site, 1 recruiting
- Not yet recruiting
Ghent University
Ghent
Bart Leroy, MD, PhD
Finland1 site, 1 recruiting
- Recruiting
Helsinki University Hospital
Helsinki, 00100
Eeva-Marja Sankila, MD, +358 9 4711, eeva-marja.sankila@hus.fi
France1 site, 1 recruiting
- Recruiting
CHNO des Quinze-Vingts
Paris, 75012
Isabelle Audo, MD, +33(0) 1 40 02 14 55, tdib@15-20.fr
Israel1 site, 1 recruiting
- Recruiting
Hadassah-Hebrew University Medical Center
Jerusalem, 9112001
Eyal Banin, MD, 972-54-4969153, devoramarks@gmail.com
Italy1 site, 1 recruiting
- Recruiting
Vista Vision Eye Clinic
Brescia, 25123
Giacomo Calzetti, MD, 39 333 932 9837, giacomocalzetti@gmail.com
Mexico1 site, 1 recruiting
- Recruiting
Retina and Genomics Institute
Yucatán, Merida
Adda Villanueva, MD, 52 999 22 33 623, info@mejoravisionmd.com
52 999 406 0586
Netherlands1 site, 1 recruiting
- Recruiting
Radboud University Medical Center
Nijmegen, 6525 GA
Suzanne Yzer, MD, +31 24 3613212, jack.weeda@radboudumc.nl
Norway1 site, 1 recruiting
- Recruiting
Oslo University Hospital
Oslo
Josephine P Holtan, MD, PhD, thatre@ous-hf.no
United Kingdom1 site, 1 recruiting
- Recruiting
Moorfields Eye Hospital
London, EC1V 2PD
Michel Michaelides, MD, 02075662108, ellen.bootle1@nhs.net
About this study
This is an international, multicenter study with two components:
Registry
Read more
- A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection
- Enrollment is open to all genes on the RD Rare Gene List
Natural History Study
- A prospective, standardized, longitudinal Natural History Study
- Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.
Registry Objectives
- Genotype Characterization
- Cross-Sectional Phenotype Characterization (within gene)
- Establish a Link to My Retina Tracker Registry (MRTR)
- Ancillary Exploratory Studies - Pooling of Genes
Natural History Study Objectives
- Natural History (within gene)
- Structure-Function Relationship (within gene)
- Risk Factors for Progression (within gene)
- Ancillary Exploratory Studies - Pooling of Genes
Read the detailed description
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.
- Natural History Study (NHS) Phase
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:
- Describe the natural history of retinal degeneration in patients with rare disease-causing genetic variants
- Identify sensitive structural and functional outcome
- Identify well-defined subpopulations for future clinical trials of investigative treatments for rare inherited retinal degeneration
- Keywords
- Inherited Retinal Degeneration
- Medical subject headings
- Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Younger Age Cohort | 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. | |
| Vision Cohort 1 | 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 | |
| Vision Cohort 2 | 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 | |
| Vision Cohort 3 | 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) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: Baseline and every year until study completion (4 years)
Functional Outcome: Characterize Change in Contrast sensitivity function
Measured by Contrast sensitivity CSV-1000E chart
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: Baseline and every year until study completion (4 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Oct 2022
- Study start11 May 2023
- Primary completion15 Dec 2029 (estimated)
- Study completion15 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Retinal DegenerationStudies of the same condition, open and under way.
- 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
- Cross-sectional
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jaeb Center for Health Research
- Sponsor type
- University, hospital or other
- Collaborators
- Foundation Fighting Blindness
- Responsible party
- Sponsor
- Investigators
- José-Alain Sahel, MD, Study chair, Director, UPMC Eye Center University of Pittsburgh School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05589714
- Sponsor's protocol ID
- Uni-Rare
- Acronym
- Uni-Rare
- Status last verified
- Oct 2026
- First submitted
- 18 Oct 2022
- Last updated
- 29 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
- ClinicalTrials.gov ID
- NCT05589714
- Acronym / sponsor ID
- Uni-Rare / Uni-Rare
- Keywords
- Inherited Retinal Degeneration
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- Jaeb Center for Health ResearchUniversity, hospital or other
- Collaborators
- Foundation Fighting Blindness
- Study start
- 11 May 2023 (actual)
- Primary completion
- 15 Dec 2029 (estimated)
- Study completion
- 15 Dec 2030 (estimated)
- First posted
- 21 Oct 2022 (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.
This is an international, multicenter study with two components:
Registry
- A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection
- Enrollment is open to all genes on the RD Rare Gene List
Natural History Study
- A prospective, standardized, longitudinal Natural History Study
- Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.
Registry Objectives
- Genotype Characterization
- Cross-Sectional Phenotype Characterization (within gene)
- Establish a Link to My Retina Tracker Registry (MRTR)
- Ancillary Exploratory Studies - Pooling of Genes
Natural History Study Objectives
- Natural History (within gene)
- Structure-Function Relationship (within gene)
- Risk Factors for Progression (within gene)
- Ancillary Exploratory Studies - Pooling of Genes
Detailed description
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.
- Natural History Study (NHS) Phase
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:
- Describe the natural history of retinal degeneration in patients with rare disease-causing genetic variants
- Identify sensitive structural and functional outcome
- Identify well-defined subpopulations for future clinical trials of investigative treatments for rare inherited retinal degeneration
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Younger Age Cohort | – | –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. |
| Vision Cohort 1 | – | –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 |
| Vision Cohort 2 | – | –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 |
| Vision Cohort 3 | – | –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) |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (0 listed)
Key exclusion criteria (15 listed)
- 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.
- 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:
- Current vitreous hemorrhage
- Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV])
Time frame: Baseline and every year until study completion (4 years)
Measured by Static Perimetry (SP) using Octopus 900 Pro
Functional Outcome: Characterize Change Using Early Treatment of Diabetic Retinopathy Study (ETDRS) / HOTV Best Corrected Visual Acuity (BCVA) letter score
Time frame: Baseline and every year until study completion (4 years)
Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts
Functional Outcome: Characterize Change Using Low visual acuity test - for participants unable to see ETDRS letters
Time frame: Baseline and every year until study completion (4 years)
Measured by Berkeley Rudimentary Vision Test (BRVT) for Low Visual Acuity
Functional Outcome: Characterize Change Using ETDRS/HOTV best corrected low luminance visual acuity letter score
Time frame: Baseline and every year until study completion (4 years)
Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts
Functional Outcome: Characterize Change in Mean retinal sensitivity
Time frame: Baseline and every year until study completion (4 years)
Measured by Fundus guided Microperimetry (MP) using MAIA
Functional Outcome: Characterize Change in Contrast sensitivity function
Time frame: Baseline and every year until study completion (4 years)
Measured by Contrast sensitivity CSV-1000E chart
Functional Outcome: Characterize Change in Retinal function using amplitudes and timing in response to rod- and cone-specific stimuli
Time frame: Baseline and at study completion (4 years)
Measured by Full-field Electroretinogram (ffERG) Diagnosys Espion
Functional Outcome: Characterize Change in Full-field retinal sensitivity
Time frame: Baseline and every year until study completion (4 years)
Measured by Full-field stimulus threshold (FST) testing to blue, white, and red stimuli using Diagnosys Espion
Functional Outcome: Characterize Change in Color vision function
Time frame: Baseline and every year until study completion (4 years)
Measured by Color vision testing using Lanthony D15
Structural Outcome: Characterize Change in Ellipsoid zone (EZ) area; outer nuclear layer and ganglion cell layer thicknesses
Time frame: Baseline and every year until study completion (4 years)
Measured by Spectral Domain Optical Coherence Tomography (SD-OCT) using Heidelberg Spectralis
Structural Outcome: Characterize Change Using Qualitative and quantitative assessments of autofluorescence pattern
Time frame: Baseline and every year until study completion (4 years)
Measured by Fundus Autofluorescence (FAF) using Optos
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 29 Oct 2026.
- Foundation Fighting Blindness Public WebsiteLink provided by the sponsor.
- Uni-Rare Rare Gene ListLink provided by the sponsor.
- Individual participant dataSharing planned: 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.
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Retinoschisis, Retinal Disease
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.
José-Alain Sahel, MD study chair
Director, UPMC Eye Center University of Pittsburgh School of Medicine
36 sites in 14 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Retinal Degeneration and Retinitis Pigmentosa, run by Jaeb Center for Health Research at 36 sites in 14 countries.
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 0 inclusion and 15 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: looking for participants now, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 36 sites in United States, Canada, Brazil, Switzerland, Australia and 9 more countries. 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 Coordinating Center (813-975-8690, ffb@jaeb.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV]) (time frame: Baseline and every year until study completion (4 years)). The study lists 11 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 29 Oct 2026.