European Research Projects on Rare Diseases Driven by Young Investigators

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts6 sites in 4 countries100 target enrollmentSeptember 2013

ConditionsUsher Syndrome

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Usher Syndrome
Sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Enrollment: 100
Locations: 6
Primary Endpoint: Genotype and phenotype correlations in Usher syndrome patients
Last Updated: 11 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

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

Registry

clinicaltrials.gov

Start Date

September 2013

End Date

January 2016

Last Updated

11 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Outcomes

Primary Outcomes

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