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

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Status: Unknown

Conditions: Usher Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT01954953

P13-02

Details and patient eligibility

About

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

Enrollment: 100 estimated patients

Sex: All

Ages: 6 months to 70 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion criteria :

• Clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome consortium;
• Informed consent and agreement to participate in the study;
• Distance best corrected visual acuity ≥ 0.1.

Exclusion criteria:

• Systemic pathologies or severe ocular pathologies, systemic or topical medication usage, and/or other otolaryngology pathologies which could contaminate the results;
• Unwillingness to provide a blood sample ;
• Unwilling and/or unable to undergo the study procedures.

Trial design

100 participants in 1 patient group

no intervention