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

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational

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Official Title: European Research Projects on Rare Diseases Driven by Young Investigators

Brief 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