Trials / NCT01954953
Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Status unknown Observational Natural history / observational
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
- Treatment
- Not listed
- Gene
- Not stated
- Conditions
- Usher Syndrome
- Ages
- 6 Months to 70 Years
- Enrollment
- 100 participants
- Started
- 2013-09
- Main results expected
- 2016-01
- Results posted
- Not yet
- Record last updated
- 2015-02-04
What the study is testing
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
Where it runs
France (2)
- CHU, Laboratoire de génétique moléculaire, INSERM, Montpellier (recruiting now)
- CIC of CHNO des Quinze-vingts, Paris (recruiting now)
Germany (1)
- Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz, Mainz (recruiting now)
Netherlands (1)
- Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology, Nijmegen (recruiting now)
Portugal (2)
- AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research, Coimbra (recruiting now)
- IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory, Coimbra (recruiting now)