Informations générales (source: ClinicalTrials.gov)
European Research Projects on Rare Diseases Driven by Young Investigators (EURUSH)
Observational
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (Voir sur ClinicalTrials)
septembre 2013
29 juin 2024
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
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| CHNO DES QUINZE-VINGTS PARIS | Laurent Vinet | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| CHU, Laboratoire de génétique moléculaire, INSERM - 34093 - Montpellier - France | Christel Vaché, PhD | Contact (sur clinicalTrials) | |||
Critères
Tous
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.
- 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.