Natural History Study of Usher Syndrome ( Light4Deaf )
ConditionUsher Syndromes
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
None
Trial population
Any patient affected with Usher syndrome that has been molecularly confirmed
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
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 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborator
Source ClinicalTrials.gov