Natural History Study of Usher Syndrome ( Light4Deaf )

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Usher Syndromes Abnormalities, Multiple Blindness Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Deaf-Blind Disorders Deafness Ear Diseases Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Retinal Degeneration Retinal Diseases Retinal Dystrophies Retinitis Pigmentosa Sensation Disorders Signs and Symptoms Vision Disorders

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Necker, Paris, France

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

Study contacts

Contact information is provided by the study sponsor or research team.

Isabelle AUDO, Pr

CONTACT

[email protected]

0140021430

Thilissa DIB

CONTACT

[email protected]

0140021455

Sponsors and collaborators

Lead sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Other

Collaborators

Assistance Publique - Hôpitaux de Paris

Registry information

Official study title

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

Acronym: Light4Deaf

Important dates

Study start: 2017
Primary completion: 2022
Study completion: 2027
First posted: Dec 14, 2020
Registry last updated: Dec 14, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting