6 results
In this study, we aim to test the feasibilty, reliability and validity of the MOX-accelerometer in measuring daily physical activity in children with mitochondrial disease.
To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder
The primary objective of this study is to assess the efficacy and safety of Genz-112638 compared with Cerezyme after 52 weeks of treatment in patients with Gaucher disease type 1 who have been stabilized with Cerezyme. The secondary objective of…
Objective: Our proposed pilot study explores the safety, feasibility and efficacy of ketogenic diet in adults with mitochondrial myopathy to improve exercise intolerence and look for biomarkers that might predict patient response to the MAD…
Main objective: We propose a proof of concept study to apply noninvasive brain stimulation, specifically tACS, for the first time to adult CG patients with the aim to find stimulation protocols that improve their motor and language performance by…
To evaluate the safety and efficacy of PRX-102 compared to agalsidase beta in Fabry disease patients with impaired renal function.