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

• Conditions: Usher Syndrome

• Registration Number: NCT01954953
• Lead Sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

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 Description

Not available

Study Timeline

• Status Verified: 2013-09
• Study Start: 2013-09
• Study First Submitted: 2013-09-18
• Study First Submitted QC: 2013-09-27
• Study First Posted: 2013-10-07
• Last Update Submitted: 2015-02-03
• Last Update Posted: 2015-02-04
• Primary Completion: 2016-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genotype and phenotype correlations in Usher syndrome patients	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

Trial Locations

Locations (6)

Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology; 🇳🇱 Nijmegen, Netherlands

AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research; 🇵🇹 Coimbra, Portugal

IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory; 🇵🇹 Coimbra, Portugal

CHU, Laboratoire de génétique moléculaire, INSERM; 🇫🇷 Montpellier, France

Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz; 🇩🇪 Mainz, Germany

CIC of CHNO des Quinze-vingts; 🇫🇷 Paris, France