Natural History Study of Usher Syndrome ( Light4Deaf )
Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
400 participants
Jun 8, 2017
OBSERVATIONAL
Conditions
Summary
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.
Eligibility
Plain Language Summary
Simplified for easier understanding
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Locations(4)
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NCT04665726