Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe

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Usher syndrome
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Brief Title

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

Official Title

European Research Projects on Rare Diseases Driven by Young Investigators

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

Study Type

Observational

Primary Outcome

Genotype and phenotype correlations in Usher syndrome patients

Condition

Usher Syndrome

Study Arms / Comparison Groups

 no intervention
Description:

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment

100

Start Date

September 2013

Primary Completion Date

January 2016

Eligibility 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.

Gender

All

Ages

6 Months - 70 Years

Accepts Healthy Volunteers

No

Contacts

, , [email protected]

Location Countries

France

Location Countries

France

Administrative Informations

NCT ID

NCT01954953

Organization ID

P13-02

Responsible Party

Sponsor

Study Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Collaborators

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

Study Sponsor

, ,

Verification Date

September 2013