Found 2 clinical trials
Venglustat in Combination With Cerezyme in Adult and Pediatric Patients With Gaucher Disease Type 3
Cohort 3 Evaluate the efficacy of venglustat in combination with Cerezyme in adult and pediatric GD3 patients by assessing: CSF Lyso-GL1 levels Modified Friedreichs Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) Brain resting-state functional Magnetic Resonance Imaging (rs-fMRI) reflecting connectivity between parieto-occipital areas Bone disease manifestations Evaluate safety …
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- 19 Feb, 2024
- 7 locations
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. …
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- 19 Feb, 2024