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Natural History Study of Usher Syndrome ( Light4Deaf )

NCT ID: NCT04665726

Last Updated: 2020-12-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-06-08

Study Completion Date

2027-06-08

Brief Summary

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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

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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

Conditions

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Usher Syndromes

Keywords

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Usher syndrome, Natural history study for retinal degenetation, Deep-phenotyping, Hearing loss, Vestibular dysfunction

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role collaborator

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Isabelle AUDO, Pr

Role: PRINCIPAL_INVESTIGATOR

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Locations

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Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Paris, , France

Site Status RECRUITING

CHU Pitié Salpêtrière

Paris, , France

Site Status RECRUITING

CHU Necker

Paris, , France

Site Status RECRUITING

CHU Robert Debré

Paris, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Isabelle AUDO, Pr

Role: CONTACT

Phone: 0140021430

Email: [email protected]

Thilissa DIB

Role: CONTACT

Phone: 0140021455

Email: [email protected]

Facility Contacts

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Isabelle AUDO, PU-PH

Role: primary

Bahram Bodaghi

Role: primary

Stéphanie Lahouij

Role: backup

Natalie Loundon

Role: primary

Sandrine Marlin

Role: backup

Sylvette Wiener Vacher

Role: primary

Other Identifiers

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2016-A01715-46

Identifier Type: OTHER

Identifier Source: secondary_id

P16-05

Identifier Type: -

Identifier Source: org_study_id