Usher Syndrome Clinical Trial
Official title:
European Research Projects on Rare Diseases Driven by Young Investigators
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
n/a
Observational Model: Cohort, Time Perspective: Prospective
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