6 results
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…
Primary ObjectivesThe primary objectives of this study are as follows:• To evaluate the safety and tolerability of risdiplam.• To investigate the pharmacokinetics (PK) of risdiplam and metabolites as appropriate.Secondary ObjectiveThe secondary…
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…
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…
* Primary Objective:To assess the effect of MEDI0382 on hepatic glycogen levels versus placebo after 28 days (Part A) and 35 days (Part B) of treatment* Secundary Objective: - To assess the effect of MEDI0382 on hepatic glycogen levels versus…