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Usher syndrome type 1
MONDO:0010168A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
Also known as: USH1, Usher syndrome type 1, Usher syndrome, type 1, retinitis pigmentosa and congenital deafness, USH1A, USHER syndrome, type I, Usher syndrome, type 1A, Usher syndrome, type 1B
3 clinical trials for this condition and its sub-types, 0 tagged with Usher syndrome type 1 itself.
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Sub-types of Usher syndrome type 1
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Usher syndrome type 1B 3 trials
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Usher syndrome type 1C 1 trial
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Usher syndrome type 1D 1 trial
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Usher syndrome type 1F 1 trial
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Usher syndrome type 1G 1 trial
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Usher syndrome type 1E 0 trials
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Usher syndrome type 1H 0 trials
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Usher syndrome type 1K 0 trials
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Usher syndrome, type 1D/F 0 trials
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Gene therapy for rare Blindness-Deafness syndrome passes early safety check
Disease control OngoingThis phase 2 study follows 9 adults with Usher syndrome type 1B who previously received a single injection of the gene therapy SAR421869 under their retina. Researchers are monitoring long-term safety and whether the treatment can slow retinal degeneration. The trial is active bu…
Phase 2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC