69 results
The primary objective of this study is to investigate the feasibility of several promising outcome measures in children with AS, which may later serve as potential outcome measures for treatment studies and other research. The study*s secondary…
The primary aim of this study is to investigate the safety and feasibility of ultra-high field magnetic resonance imaging (MRI) of the brain in neonates and to optimize scan protocols.
The overall goal of this study is to accelerate the development of new therapies for DM1 by validating new clinical assessments for measuring disease status and collecting data and biological samples to help understand disease progression and…
The goals of this study are to examine the aetiology and daily impact of peripheral neuropathy in MLD patients over time, and to identify dynamic biomarkers that correlate with the severity of peripheral neuropathy over time, and might predict…
Primary objective: Response to trametinib treatment defined as a tumor volume decreases from baseline of >=20%, monitored by using volumetric MRI analysis. Secondary objectives are: patient reported outcomes of pain and disability and quality…
1. To investigate the size of the HCHWA-D population by identifying all (possible) mutation carriers and their relatives. 2. Study the genealogy and natural disease history of these carriers.3. Get insight in possible genetic, environmental and…
-Evaluate the safety and efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in male subjects <= 17 years of age with cerebral adrenoleukodystrophy (CALD)
The objective is to research the psychometric properties (feasability, reliability and validity) of the Zuidwester Balans Schaal.
Primary1) Identify a selection of Child Brain Lab assessments that can serve as clinically relevant and feasible outcome measures for an anticipated gene therapy intervention trial in children & adults with calcium-related synaptopathies2)…