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