Eye on the Research

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The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39). 

Sponsors and Collaborators: Jaeb Center for Health Research and Foundation Fighting Blindness

Study Chair:  Jacque Duncan, MD University of California, San Francisco

Locations:  United States, Canada, France, Germany, Netherlands, and UK

More information can be found here: https://clinicaltrials.gov/.

The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.

Sponsors and Collaborators:  Jaeb Center for Health Research, Usher 1F Collaborative, and Marjorie C. Adams Foundation

Study Chair:  Katarina Stingl, MD 

Locations:  United States, Canada, Israel, Germany, and Netherlands.

More information can be found here: https://clinicaltrials.gov/..

Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subjects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials. 

Sponsors and Collaborators: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts and Assistance Publique - Hôpitaux de Paris

Principal Investigator:  Isabelle AUDO, Pr 

Location:  France

More information can be found here: https://clinicaltrials.gov/..

This study aims to characterize Usher patients in order to correlate this data with genetic information, and develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials.

Sponsors and Collaborators: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Institut National de la Santé Et de la Recherche Médicale, France

Locations:  France, Germany, Netherlands, and Portugal. 

More information can be found here:  https://clinicaltrials.gov/..