Natural History Study of Usher Syndrome ( Light4Deaf ) (Light4Deaf)

December 7, 2020 updated by: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

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

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.

Study Overview

Status

Recruiting

Conditions

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

Enrollment (Anticipated)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Thilissa DIB
  • Phone Number: 0140021455
  • Email: tdib@15-20.fr

Study Locations

  • France
      • Paris, France, 75012
        • Recruiting
        • Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
        • Contact:
        • Principal Investigator:
          • Isabelle Audo
        • Sub-Investigator:
          • José Alain Sahel
        • Sub-Investigator:
          • Saddek Mohand-Said
        • Sub-Investigator:
          • Michel Paques
        • Sub-Investigator:
          • Sarah Mrejen
        • Sub-Investigator:
          • Raphaël Atia
      • Paris, France, 75013
        • Recruiting
        • CHU Pitie Salpetriere
        • Contact:
        • Contact:
        • Principal Investigator:
          • Bahram Bodaghi
        • Sub-Investigator:
          • Georges Challe
        • Principal Investigator:
          • Isabelle Mosnier
        • Principal Investigator:
          • Pascale Diehl Pradat
      • Paris, France, 75015
        • Recruiting
        • CHU Necker
        • Contact:
        • Contact:
        • Principal Investigator:
          • Natalie Loundon
        • Sub-Investigator:
          • Isabelle Rouillon
        • Sub-Investigator:
          • Marine Parodi
        • Sub-Investigator:
          • Marion Blanchard
        • Principal Investigator:
          • Sandrine Marlin
      • Paris, France, 75019
        • Recruiting
        • CHU Robert Debré
        • Contact:
        • Principal Investigator:
          • Sylvette Wiener Vacher

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Any patient affected with Usher syndrome that has been molecularly confirmed

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
From date of inclusion until the date of last documented progression , assessed up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 8, 2017

Primary Completion (Anticipated)

June 8, 2022

Study Completion (Anticipated)

June 8, 2027

Study Registration Dates

First Submitted

December 7, 2020

First Submitted That Met QC Criteria

December 7, 2020

First Posted (Actual)

December 14, 2020

Study Record Updates

Last Update Posted (Actual)

December 14, 2020

Last Update Submitted That Met QC Criteria

December 7, 2020

Last Verified

November 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P16-05
  • 2016-A01715-46 (Other Identifier: N°IDRCB)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Usher Syndromes

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Djibouti

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe