Natural History Study of Usher Syndrome ( Light4Deaf )

Overview

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 Title of Study: “Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years”

Study Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: June 8, 2022

Detailed 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

Clinical Trial Outcome Measures

Primary Measures

  • 5-year natural history of Usher syndrome
    • Time Frame: 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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts
  • Collaborator
    • Assistance Publique – Hôpitaux de Paris
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Isabelle AUDO, Pr, Principal Investigator, Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts
  • Overall Contact(s)
    • Isabelle AUDO, Pr, 0140021430, isabelle.audo@inserm.fr

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