Universal Rare Gene Study: Retinal Dystrophies
This study is looking into inherited retinal degenerations, including retinitis pigmentosa, which are eye conditions that can lead to vision loss. It's an observational study, meaning researchers will collect information about your condition over time without giving you any new treatments. The goal is to understand how these rare genetic conditions progress and how they affect your vision. Researchers will measure changes in your visual field sensitivity and how well you can see letters on an eye chart (visual acuity) at the start of the study and every year for four years. You can join if you are at least 4 years old and have a confirmed genetic diagnosis for one of the rare retinal degeneration genes being studied. The study aims to enroll 1500 participants.
- Study design
- This is an observational study with two parts: a Registry for genetic screening and data collection, and a Natural History Study that will follow participants over time. It aims to enroll 1500 participants.
- What's involved
- You would have your existing genetic report reviewed. If eligible, you would participate in annual phone calls or yearly in-person assessments for up to four years, where your vision will be tested.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for four years, with assessments at baseline and every year until study completion.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
At a glance
Conditions
NCT05589714
Where you'd take part
This study runs at 36 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Baylor College of Medicine, Alkek Eye Center
Houston, Texasstudy coordinator listed
Recruiting
Centre for Eye Research Australia
East Melbourne, Victoria, Australiastudy coordinator listed
Recruiting
CHNO des Quinze-Vingts
Paris, Francestudy coordinator listed
Recruiting
Duke University, Duke Eye Center
Durham, North Carolinastudy coordinator listed
Recruiting
Emory University, Emory Eye Center
Atlanta, Georgiastudy coordinator listed
Recruiting
Hadassah-Hebrew University Medical Center
Jerusalem, Israelstudy coordinator listed
Recruiting
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, Massachusettsstudy coordinator listed
Recruiting
Helsinki University Hospital
Helsinki, Finlandstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- José-Alain Sahel, MD · STUDY_CHAIR · Director, UPMC Eye Center University of Pittsburgh School of Medicine
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV])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 scoreBaseline 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 lettersBaseline 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 scoreBaseline 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 sensitivityBaseline and every year until study completion (4 years)
Measured by Fundus guided Microperimetry (MP) using MAIA
- Functional Outcome: Characterize Change in Contrast sensitivity functionBaseline 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 stimuliBaseline and at study completion (4 years)
Measured by Full-field Electroretinogram (ffERG) Diagnosys Espion
- Functional Outcome: Characterize Change in Full-field retinal sensitivityBaseline 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 functionBaseline 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 thicknessesBaseline 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 patternBaseline and every year until study completion (4 years)
Measured by Fundus Autofluorescence (FAF) using Optos