Natural History Study of Usher Syndrome ( Light4Deaf )

Usher Syndromes Clinical Trial

— Light4Deaf  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04665726
• Other study ID #: P16-05
• Secondary ID: 2016-A01715-46
• Status: Recruiting
• Start date: June 8, 2017
• Est. completion date: June 8, 2027

Study information

• Verified date: November 2020
• Source: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
• Contact: Isabelle AUDO, Pr
• Phone: 0140021430
• Email: isabelle.audo[@]inserm.fr
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 400
• Est. completion date: June 8, 2027
• Est. primary completion date: June 8, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Syndrome
• Usher Syndromes

Locations

Country	Name	City	State
France	Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts	Paris
France	CHU Necker	Paris
France	CHU Pitié Salpêtrière	Paris
France	CHU Robert Debré	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts	Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	5-year natural history of Usher syndrome	Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters	From date of inclusion until the date of last documented progression , assessed up to 5 years