Natural History Study of Usher Syndrome ( Light4Deaf )

Condition(s) studied

Study 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

Primary outcome measure(s)

• 5-year natural history of Usher syndrome — From date of inclusion until the date of last documented progression , assessed up to 5 years
  Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters

Trial sites (4)

More Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts trials in France