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

C

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Status

Unknown

Conditions

Usher Syndrome

Study type

Observational

Funder types

Other

Identifiers

Details and patient eligibility

About

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

Enrollment

100 estimated patients

Sex

All

Ages

6 months to 70 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion 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.

Trial design

100 participants in 1 patient group

no intervention

Trial contacts and locations

6

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Central trial contact

Ieva Sliesoraityte, MD PhD

Data sourced from clinicaltrials.gov

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