5 results
Main objective: To map the natural course of the visual and hearing deterioration in Usher Syndrome type 2 for upcoming genetic therapy studies.Secondary Objective 1): To determine a. the necessary type of (combined) examinations, b. the sample size…
To report the natural history of retinal degeneration in patients with biallelic mutations in the USH2A gene; to identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in USH2A-related retinal…
To investigate if conventional tDCS can be improved by using a new electrode configuration. To find a relation between ongoing EEG and MEP magnitude. To investigate the effect of tDCS on cortical excitability (measured with TMS), brain activity (…
The purpose of this study is to evaluate the possible risks and efficacy (improvement of disease) with an experimental oral study drug named eliglustat in pediatric patients from 2 to 18 years with Gaucher disease.
The goal of this study is to characterize the natural course of IRDs that can potentially be modulated by future therapy. Second, this study aims to understand the relationship between various structural and functional biomarkers in potentially…