Brief Title
Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
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
Study Type
Observational
Primary Outcome
Genotype and phenotype correlations in Usher syndrome patients
Condition
Usher Syndrome
Study Arms / Comparison Groups
no intervention
Description:
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
100
Start Date
September 2013
Primary Completion Date
January 2016
Eligibility 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.
Gender
All
Ages
6 Months - 70 Years
Accepts Healthy Volunteers
No
Contacts
, , [email protected]
Location Countries
France
Location Countries
France
Administrative Informations
NCT ID
NCT01954953
Organization ID
P13-02
Responsible Party
Sponsor
Study Sponsor
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Study Sponsor
, ,
Verification Date
September 2013