Massive study tracks rare eye diseases to pave way for future treatments

NCT ID NCT05589714

Knowledge-focused Sponsor: Jaeb Center for Health Research Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Sep 09, 2026 · Updated 6 times

Summary

This international study aims to collect genetic and health information from 1,500 people with rare inherited retinal diseases like retinitis pigmentosa. It has two parts: a registry to gather genetic and vision data, and a natural history study that follows participants over time to see how their vision changes. The goal is to better understand these rare conditions, which could help researchers develop and test new treatments in the future.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to: If successful, this study could provide crucial data to help design future treatments for rare retinal diseases.
What could go wrong: This is an observational study, not testing a treatment. It may not directly benefit participants and results depend on long-term follow-up.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,500 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2023

Expected to finish

Dec 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

4 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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: 1. Willing to participate in the study and able to communicate consent during the consent process 2. Willing and able to complete all applicable Registry/Screening Visit assessments 3. Age ≥ 4 years 4. Must have a single gene on the RD Rare Gene List which meets one of the Genetic Screening Criteria below based on a genetic report\* from a clinically certified lab (or from a research lab which has been approved by the study Genetics Committee): 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: 1. Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance 2. The 2 disease-causing variants have not been reported in cis in variant databases 3. No additional potentially pathogenic variants were found on the gene (and the sequencing data for the gene were sufficiently robust to detect any additional potentially pathogenic variants) 4. No potentially pathogenic variants were found in other common, likely candidate genes for the proposed condition 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: 1. Both eyes must have a clinical diagnosis of retinal dystrophy 2. Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation) 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: 1. Current vitreous hemorrhage 2. 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 3. History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit 4. 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) 5. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy 6. 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) 7. 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 8. 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)

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Conditions

The condition(s) this trial relates to.

inherited retinal dystrophy retinitis pigmentosa

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Inherited retinal degeneration Retinitis pigmentosa

How to take part

Only the study team decides who joins. These are the ways to reach them.

The study's own enquiry address

This study publishes an address for enquiries. See it below .
The places running it

36 sites in 14 countries. The list below names each one and where it is.
The official record

ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

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A doctor treating you

A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Show contact details

Locations

Baylor College of Medicine, Alkek Eye Center
RECRUITING

Houston, Texas, 77030, United States
CHNO des Quinze-Vingts
RECRUITING

Paris, 75012, France
Centre for Eye Research Australia
RECRUITING

East Melbourne, Victoria, Australia
Duke University, Duke Eye Center
RECRUITING

Durham, North Carolina, 27705, United States
Emory University, Emory Eye Center
RECRUITING

Atlanta, Georgia, 30322, United States
Ghent University
NOT_YET_RECRUITING

Ghent, Belgium
Hadassah-Hebrew University Medical Center
RECRUITING

Jerusalem, 9112001, Israel
Harvard Univ., Massachusetts Eye and Ear Infirmary
RECRUITING

Boston, Massachusetts, 02114, United States
Helsinki University Hospital
RECRUITING

Helsinki, 00100, Finland
INRET Clínica e Centro de Pesquisa
RECRUITING

Belo Horizonte, Minas Gerais, 30150-270, Brazil
Instituto de Genética Ocular
RECRUITING

São Paulo, São Paulo Province, Brazil
Johns Hopkins University, Wilmer Eye Institute
RECRUITING

Baltimore, Maryland, 21236, United States
Mayo Clinic
RECRUITING

Rochester, Minnesota, 55905, United States
Medical College of Wisconsin Eye Institute
RECRUITING

Milwaukee, Wisconsin, 53226, United States
Moorfields Eye Hospital
RECRUITING

London, EC1V 2PD, United Kingdom
Oregon Health & Science Univ., Casey Eye Institute
RECRUITING

Portland, Oregon, 97239, United States
Oslo University Hospital
RECRUITING

Oslo, Norway
Radboud University Medical Center
RECRUITING

Nijmegen, 6525 GA, Netherlands
Retina Foundation of the Southwest
RECRUITING

Dallas, Texas, 75231, United States
Retina and Genomics Institute
RECRUITING

Yucatán, Merida, Mexico

Contact Email: •••••@•••••
UPMC Eye Center
RECRUITING

Pittsburgh, Pennsylvania, 15213, United States
USC Roski Eye Institute
RECRUITING

Los Angeles, California, 90033, United States
University Health Network
RECRUITING

Toronto, M5T 2S8, Canada
University Hospital Basel
RECRUITING

Basel, Canton of Basel-City, Switzerland
University Hospital Jules-Gonin
RECRUITING

Lausanne, 1004, Switzerland
University of Alberta and Alberta Health Services
RECRUITING

Edmonton, Alberta, Canada

Contact Email: •••••@•••••
University of Arkansas, Jones Eye Institute
RECRUITING

Little Rock, Arkansas, 72205, United States
University of California San Francisco
RECRUITING

San Francisco, California, 94158, United States
University of Florida Health Jacksonville
RECRUITING

Jacksonville, Florida, 32209, United States
University of Miami, Bascom Palmer Eye Institute
RECRUITING

Miami, Florida, 33136, United States
University of Michigan, Kellogg Eye Center
RECRUITING

Ann Arbor, Michigan, 48105, United States
University of Pennsylvania, Scheie Eye Institute
RECRUITING

Philadelphia, Pennsylvania, 19104, United States
University of Toronto, Hospital for Sick Children
RECRUITING

Toronto, Ontario, M5G 2L3, Canada
University of Utah, John Moran Eye Center
RECRUITING

Salt Lake City, Utah, 84132, United States
University of Wisconsin Madison
RECRUITING

Madison, Wisconsin, 53711, United States
Vista Vision Eye Clinic
RECRUITING

Brescia, 25123, Italy

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