6 results
Primary objective- To measure the effect of sapropterin on diurnal and day to day variations of blood phenylalanine concentrations.Secondary objective- To measure the effect of sapropterin on diurnal and day to day variations of blood tyrosine…
Primary Objective: To evaluate whether a single intravenous alfentanil bolus (7.5 mcg/kg) has a clinically significant analgesic effect in clinical patients who undergo an elective CT-colonography compared to placebo. We have defined a clinically…
1. To report the natural history of retinal degeneration in patients with biallelic mutations in the EYS gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal…
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…
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…
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…