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

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ClinicalTrials.gov Identifier: NCT01954953
Recruitment Status : Unknown
Verified September 2013 by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts.
Recruitment status was:  Recruiting
First Posted : October 7, 2013
Last Update Posted : February 4, 2015
Information provided by (Responsible Party):

Study Description
Brief Summary:

This study aims to characterize Usher patients in order to correlate this data with genetic information.


  • 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
Usher Syndrome

Study Design

Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: European Research Projects on Rare Diseases Driven by Young Investigators
Study Start Date : September 2013
Estimated Primary Completion Date : January 2016

Groups and Cohorts

no intervention

Outcome Measures

Primary Outcome Measures :
  1. 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

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
USH1, USH2 and USH3 as defined by the Usher syndrome consortium

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01954953

Contact: Ieva Sliesoraityte, MD PhD ieva.sliesoraityte@inserm.fr

CHU, Laboratoire de génétique moléculaire, INSERM Recruiting
Montpellier, France, 34093
Contact: Christel Vaché, PhD         
Principal Investigator: Christel Vaché, PhD         
CIC of CHNO des Quinze-vingts Recruiting
Paris, France, 75012
Contact: Laurent Vinet    +33140021126    lvinet@quinze-vingts.fr   
Principal Investigator: Jose-Alain Sahel, MD PhD         
Principal Investigator: Ieva Sliesoraityte, MD PhD         
Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz Recruiting
Mainz, Germany, 55099
Contact: Kerstin Nagel-Wolfrum, PhD         
Principal Investigator: Kerstin Nagel-Wolfrum, PhD         
Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology Recruiting
Nijmegen, Netherlands, 6500 HB
Contact: Erwin van Wijk, PhD         
Principal Investigator: Erwin van Wijk, PhD         
AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research Recruiting
Coimbra, Portugal, 3000-548
Contact: Leal Sérgio Casimiro da Silva         
Principal Investigator: Leal Sérgio Casimiro da Silva         
IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory Recruiting
Coimbra, Portugal, 3000-548
Contact: Eduardo José Gil Duarte Silva, MD PhD         
Principal Investigator: Eduardo José Gil Duarte Silva, MD PhD         
Sponsors and Collaborators
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Institut National de la Santé Et de la Recherche Médicale, France
More Information

Additional Information:

Responsible Party: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
ClinicalTrials.gov Identifier: NCT01954953     History of Changes
Other Study ID Numbers: P13-02
First Posted: October 7, 2013    Key Record Dates
Last Update Posted: February 4, 2015
Last Verified: September 2013

Keywords provided by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts:
Retinitis Pigmentosa Syndromic
Congenital Deafness
Usher Syndrome Retinitis Pigmentosa and Deafness
Progressive Hearing Loss
Retinitis Pigmentosa

Additional relevant MeSH terms:
Usher Syndromes
Pathologic Processes
Deaf-Blind Disorders
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Hearing Loss, Sensorineural
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Vision Disorders
Retinitis Pigmentosa
Retinal Dystrophies
Retinal Degeneration
Retinal Diseases
Eye Diseases
Abnormalities, Multiple
Congenital Abnormalities
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Signs and Symptoms