Scientists map rare blindness to speed future cures

NCT ID NCT04765345

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

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 44 people with a rare genetic form of Usher syndrome caused by PCDH15 mutations. Over 48 months, researchers measure how their vision changes using eye exams and imaging. The goal is to identify the best ways to track disease progression, which will help design future clinical trials for potential treatments.

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 the key measurements needed to test new treatments for this rare form of blindness.
What could go wrong: This is an observational study, not a treatment trial. It only measures disease progression and does not test any therapy, so it cannot directly help participants.

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

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for EYE DISEASES, HEREDITARY are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

autosomal recessive nonsyndromic hearing loss 23 Eye Diseases, Hereditary retinal degeneration retinitis pigmentosa

As listed by the trial registrant

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

EYE DISEASES, HEREDITARY RETINAL DEGENERATION RETINITIS PIGMENTOSA

Contacts and locations

Locations

CHNO des Quinze-Vingts

Paris, France
Duke University, Duke Eye Center

Durham, North Carolina, 27710, United States
Haddassah Medical Center

Jerusalem, Israel
Hospital for Sick Children

Toronto, Ontario, Canada
Moorfields Eye Hospital

London, EC1V 2PD, United Kingdom
Radboud University

Nijmegen, Netherlands
The Johns Hopkins Wilmer Eye Institute

Baltimore, Maryland, 21287, United States
University Hospital Basel

Basel, 4031, Switzerland
University of California, San Francisco

San Francisco, California, 94143-0344, United States
University of Tubingen

Tübingen, Germany

More trials for these conditions

Other studies related to the condition(s) this trial covers.