Clinical Trial: Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational
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
Detailed Summary:
Sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Current Primary Outcome: Genotype and phenotype correlations in Usher syndrome patients [ Time Frame: up to 3 years (2016) ]
Protocol outline: patients undergo clinical and molecular studies. These include extensive ophthalmologic (best corrected visual acuity, refraction, tonometry, color vision, visual field testing, pupillography*, full-field electroretinogram, multifocal electroretinogram, autofluorescence imaging, optical coherence tomography, adaptive optics*) examination, audiologic and vestibular evaluation and obtaining blood samples for genetic analysis.
*only if available
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Dates:
Date Received: September 18, 2013
Date Started: September 2013
Date Completion:
Last Updated: February 3, 2015
Last Verified: September 2013