French Hospital conducts Natural History Study of Usher Syndrome
Photo by Jessica Flavia
The Quinze-Vingts National Ophthalmology Hospital (Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts) is conducting Natural History Study of Usher Syndrome.
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.
This study aims at precisely documenting ophthalmic, auditory, vestibular, cogninitive alterations over time with phenotype/genotype correlation Ophthalmological assessment; Best corrected visual acuity, kynetic perimetry, microperimetry, colour contrast sensitivity, retinal multimodal imaging.
It is planned to include 400 participants.
Actual study start date is June 8, 2017. The researchers expect to complete the study by June 8, 2027.
The population that can be enrolled into this study includes any patient affected with Usher syndrome that has been molecularly confirmed.
The location of the study is as follows (further details can be found here https://ichgcp.net/clinical-trials-registry/NCT04665726) Paris, France.
