9 results
Primary ObjectiveThe primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in patients with late-onset Pompe disease.Secondary ObjectivesThe secondary…
The goal of this trial is to confirm that eradication rates obtained with Pylera are compatible to those obtained with the current European gols standard, OAC 7 days. This trial will constitute a pivotal trial leading eventually to approval of…
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…
The objective of the study is to asses the efficacy and safety of intravenous ATB200 co-administration with oral AT2221 by evaluating the changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in adult subjects with late-onset…
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…
The objective of the study is to gather more information about the long-term effect of enzyme therapy in patients with Pompe disease with a different severity of disease. The goal is also to set guideline for start and stop of treatment and to…
The overall objective of this study is to evaluate the efficacy and safety of neoGAA in treatment-naïve patients with LOPD as compared to alglucosidase alfa, when this is administered biweekly for a period of 49 weeks. Also, there is an open-label…