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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified September 2013 by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts.
Recruitment status was:  Recruiting
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts Identifier:
First received: September 18, 2013
Last updated: February 3, 2015
Last verified: September 2013

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

Usher Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: European Research Projects on Rare Diseases Driven by Young Investigators

Resource links provided by NLM:

Further study details as provided by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts:

Primary Outcome Measures:
  • Genotype and phenotype correlations in Usher syndrome patients [ Time Frame: up to 3 years (2016) ] [ Designated as safety issue: No ]

    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

Estimated Enrollment: 100
Study Start Date: September 2013
Estimated Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)
no intervention


Ages Eligible for Study:   6 Months to 70 Years   (Child, Adult, Senior)
Genders 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
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Please refer to this study by its identifier: NCT01954953

CHU, Laboratoire de génétique moléculaire, INSERM
Montpellier, France, 34093
CIC of CHNO des Quinze-vingts
Paris, France, 75012
Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz
Mainz, Germany, 55099
Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology
Nijmegen, Netherlands, 6500 HB
AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research
Coimbra, Portugal, 3000-548
IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory
Coimbra, Portugal, 3000-548
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 Identifier: NCT01954953     History of Changes
Other Study ID Numbers: P13-02 
Study First Received: September 18, 2013
Last Updated: February 3, 2015
Health Authority: France: Committee for the Protection of Personnes
France: Agence Nationale de Sécurité du Médicament et des produits de santé

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 processed this record on January 17, 2017