Natural History Study of Usher Syndrome ( Light4Deaf )
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- STATUS
- Recruiting
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- End date
- Jun 8, 2027
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- participants needed
- 400
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- sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
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.
Description
Our cohort 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 (fundus photograph, fundus autofluorescence, SD-OCT, OCTA, adaptive optics)
ENT assessment:
Tone and voice audiometry, Distortion product otoacoustic emissions Language assessment for children
Vestibular assessment:
Complete assessment of vestibular, canal and otolithic function Neuro-cognitive and visio spatial assessment Genetic: deep-genotyping using next generation sequencing
Details
| Condition | Usher Syndrome, Retinitis Pigmentosa, Retinitis Pigmentosa |
|---|---|
| Clinical Study Identifier | NCT04665726 |
| Sponsor | Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts |
| Last Modified on | 27 January 2021 |
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