Natural History Study of Usher Syndrome ( Light4Deaf )

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Status: Enrolling

Conditions: Usher Syndromes

Study type: Observational

Funder types: Other

Identifiers

NCT04665726

P16-05

2016-A01715-46 (Other Identifier)

Details and patient eligibility

About

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.

Full 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

Enrollment: 400 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patient with a molecular diagnosis of Usher syndrome type I, II or III or a clinical diagnosis of Usher syndrome type I, II or III which will then be confirmed by a molecular diagnosis
• Health insurance beneficiary
• Informed consent signed by the patient or their legal representatives

Exclusion criteria

• Patient or his/her legal representatives unable to understand the study and for whom informed consent cannot be obtained