Natural History Study of Usher Syndrome ( Light4Deaf )

  • STATUS
    Recruiting
  • End date
    Jun 8, 2027
  • participants needed
    400
  • sponsor
    Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Updated on 27 January 2021

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 IdentifierNCT04665726
SponsorCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Last Modified on27 January 2021

Eligibility

Yes No Not Sure

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
Clear my responses

How to participate?

Step 1 Connect with a study center
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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