Clinical trial NCT04665726: 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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Usher Syndromes
Keywords: Usher syndrome,
Natural history study for retinal degenetation,
Deep-phenotyping,
Hearing loss,
Vestibular dysfunction
Lead sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Sponsor class: OTHER
Collaborators: name: Assistance Publique - Hôpitaux de Paris
First posted: 2020-12-14
Enrollment: 400
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Any patient affected with Usher syndrome that has been molecularly confirmed

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

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

Primary outcomes:
measure: 5-year natural history of Usher syndrome
timeFrame: From date of inclusion until the date of last documented progression , assessed up to 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
city: Paris
country: France
facility: CHU Pitié Salpêtrière
city: Paris
country: France
facility: CHU Necker
city: Paris
country: France
facility: CHU Robert Debré
Study officials:
affiliation: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
name: Isabelle AUDO, Pr
role: PRINCIPAL_INVESTIGATOR
References: