Natural History Study of Usher Syndrome ( Light4Deaf )

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04665726

Acronym

Light4Deaf

Enrollment

400

Registered

2020-12-14

Start date

2017-06-08

Completion date

2027-06-08

Last updated

2020-12-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Usher Syndromes

Keywords

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

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
5-year natural history of Usher syndrome	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

Countries

France

Contacts

Primary ContactIsabelle AUDO, Pr

isabelle.audo@inserm.fr0140021430

Backup ContactThilissa DIB

tdib@15-20.fr0140021455

Outcome results