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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Sponsor:
Collaborator:
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
ClinicalTrials.gov Identifier:
NCT01954953
First received: September 18, 2013
Last updated: September 27, 2013
Last verified: September 2013
  Purpose

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
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)
Groups/Cohorts
no intervention

  Eligibility

Ages Eligible for Study:   6 Months to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

USH1, USH2 and USH3 as defined by the Usher syndrome consortium

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01954953

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

Locations
France
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         
Germany
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         
Netherlands
Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology Recruiting
Nijmegen, Netherlands, 6500 HB
Contact: Erwin van Wijk, PhD         
Principal Investigator: Erwin van Wijk, PhD         
Portugal
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:
Publications:

Responsible Party: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
ClinicalTrials.gov Identifier: NCT01954953     History of Changes
Other Study ID Numbers: P13-02
Study First Received: September 18, 2013
Last Updated: September 27, 2013
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:
Syndrome
Usher Syndromes
Disease
Pathologic Processes
Deaf-Blind Disorders
Deafness
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Hearing Loss, Sensorineural
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Blindness
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

ClinicalTrials.gov processed this record on September 16, 2014