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

February 3, 2015 updated by: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

European Research Projects on Rare Diseases Driven by Young Investigators

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 Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Montpellier, France, 34093
        • Recruiting
        • CHU, Laboratoire de génétique moléculaire, INSERM
        • Contact:
          • Christel Vaché, PhD
        • Principal Investigator:
          • Christel Vaché, PhD
      • Paris, France, 75012
        • Recruiting
        • CIC of CHNO des Quinze-vingts
        • Contact:
        • Principal Investigator:
          • Jose-Alain Sahel, MD PhD
        • Principal Investigator:
          • Ieva Sliesoraityte, MD PhD
  • Germany
      • Mainz, Germany, 55099
        • Recruiting
        • Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz
        • Contact:
          • Kerstin Nagel-Wolfrum, PhD
        • Principal Investigator:
          • Kerstin Nagel-Wolfrum, PhD
  • Netherlands
      • Nijmegen, Netherlands, 6500 HB
        • Recruiting
        • Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology
        • Contact:
          • Erwin van Wijk, PhD
        • Principal Investigator:
          • Erwin van Wijk, PhD
  • Portugal
      • Coimbra, Portugal, 3000-548
        • Recruiting
        • AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research
        • Contact:
          • Leal Sérgio Casimiro da Silva
        • Principal Investigator:
          • Leal Sérgio Casimiro da Silva
      • Coimbra, Portugal, 3000-548
        • Recruiting
        • IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory
        • Contact:
          • Eduardo José Gil Duarte Silva, MD PhD
        • Principal Investigator:
          • Eduardo José Gil Duarte Silva, MD PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 months to 70 years (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
no intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
up to 3 years (2016)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Collaborators

Institut National de la Santé Et de la Recherche Médicale, France

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2013

Primary Completion (ANTICIPATED)

January 1, 2016

Study Registration Dates

First Submitted

September 18, 2013

First Submitted That Met QC Criteria

September 27, 2013

First Posted (ESTIMATE)

October 7, 2013

Study Record Updates

Last Update Posted (ESTIMATE)

February 4, 2015

Last Update Submitted That Met QC Criteria

February 3, 2015

Last Verified

September 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P13-02

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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