Natural History Study of Usher Syndrome ( Light4Deaf )

Brief Title

Natural History Study of Usher Syndrome ( Light4Deaf )

Official Title

Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years

Brief 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.
    

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
    


Study Type

Observational [Patient Registry]


Primary Outcome

5-year natural history of Usher syndrome


Condition

Usher Syndromes



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

400

Start Date

June 8, 2017

Completion Date

June 8, 2027

Primary Completion Date

June 8, 2022

Eligibility Criteria

        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

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Isabelle AUDO, Pr, 0140021430, [email protected]

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT04665726

Organization ID

P16-05

Secondary IDs

2016-A01715-46

Responsible Party

Sponsor

Study Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Collaborators

 Assistance Publique - Hôpitaux de Paris

Study Sponsor

Isabelle AUDO, Pr, Principal Investigator, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts


Verification Date

November 2020