UnknownNot Applicable

Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe

France, Germany, Netherlands100 participantsStarted 2013-09

Plain-language summary

This study aims to characterize Usher patients in order to correlate this data with genetic information. Tasks: * Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect. * Perform genotype and phenotype correlations in Usher syndrome patients * Develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials

Who can participate

Age range6 Months – 70 Years

SexALL

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Inclusion criteria : * Clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome consortium; * Informed consent and agreement to participate in the study; * Distance best corrected visual acuity ≥ 0.1. Exclusion criteria: * Systemic pathologies or severe ocular pathologies, systemic or topical medication usage, and/or other otolaryngology pathologies which could contaminate the results; * Unwillingness to provide a blood sample ; * Unwilling and/or unable to undergo the study procedures.

What they're measuring

Genotype and phenotype correlations in Usher syndrome patients

Timeframe: up to 3 years (2016)

Trial details

NCT IDNCT01954953

SponsorCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2016-01

Contact for this trial

Ieva Sliesoraityte, MD PhD

ieva.sliesoraityte@inserm.fr

View on ClinicalTrials.gov More Usher Syndrome trials