Scientists map rare blindness to speed future cures
NCT ID NCT04765345
First seen Feb 03, 2026 · Last updated Jun 21, 2026 · Updated 19 times
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.
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Locations
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CHNO des Quinze-Vingts
Paris, France
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Duke University, Duke Eye Center
Durham, North Carolina, 27710, United States
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Haddassah Medical Center
Jerusalem, Israel
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Hospital for Sick Children
Toronto, Ontario, Canada
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Moorfields Eye Hospital
London, EC1V 2PD, United Kingdom
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Radboud University
Nijmegen, Netherlands
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The Johns Hopkins Wilmer Eye Institute
Baltimore, Maryland, 21287, United States
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University Hospital Basel
Basel, 4031, Switzerland
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University of California, San Francisco
San Francisco, California, 94143-0344, United States
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University of Tubingen
Tübingen, Germany
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.
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.