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

Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (Other)

Overall Status

Unknown status

CT.gov ID

NCT01954953

Collaborator

Institut National de la Santé Et de la Recherche Médicale, France (Other)

100

Enrollment

Locations

16.7

Patients Per Site

Study Details

Study Description

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

Condition or Disease	Intervention/Treatment	Phase
Usher Syndrome

Study Design

Study Type:

Observational

Anticipated Enrollment :

100 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

European Research Projects on Rare Diseases Driven by Young Investigators

Study Start Date :

Sep 1, 2013

Anticipated Primary Completion Date :

Jan 1, 2016

Arms and Interventions

Arm	Intervention/Treatment
no intervention

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Months to 70 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	Country	Postal Code
1	CHU, Laboratoire de génétique moléculaire, INSERM	Montpellier	France	34093
2	CIC of CHNO des Quinze-vingts	Paris	France	75012
3	Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz	Mainz	Germany	55099
4	Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology	Nijmegen	Netherlands	6500 HB
5	AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research	Coimbra	Portugal	3000-548
6	IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory	Coimbra	Portugal	3000-548