An observational study in Usher Syndromes, sponsored by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts. Recruiting at 4 sites in France. Per ClinicalTrials.gov, last updated 2020-12-14.
Sponsored by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts · Observational
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.
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
34 studies on the registry are indexed under Usher Syndromes; 13 are open to participants now.
This study's planned enrollment of 400 is above the median of 100 across 15 observational studies indexed under Usher Syndromes.
Browse Usher Syndromes studies →Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts is the lead sponsor of 28 studies on the registry; 16 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Any patient affected with Usher syndrome that has been molecularly confirmed
Exclusion Criteria:
5-year natural history of Usher syndrome
Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters
Time frame: From date of inclusion until the date of last documented progression , assessed up to 5 years
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts