Project Details
Description
Treatment, follow-up and pathophysiology of lysosomal storage disorders within the broader context of glycosphingolipid biology. With the launch in 2008 of Sphinx, the Amsterdam Lysosome Center, the AMC has formally established its position as expert center, integrating research and care in the interest of patients with lysosomal storage disorders. Within the department of Internal Medicine, division of Endocrinology and Metabolism, the main focus is on multidisciplinary research, education and patient care in Gaucher disease, Fabry disease, Niemann Pick disease type B, Morquio disease and mucopolysaccharidosis type I, specifically:
- diagnosis and screening
- natural history
- pathophysiology of bone disease in Gaucher and MPS diseases
- pathophysiology of vascular disease in Fabry disease
- treatment with enzyme replacement therapy and small molecules (substrate inhibitors, chaperones)
- monitoring of treatment effects with focus on imaging and biochemical biomarkers
- Health Technology Assesment studies
- rare disease registries and costs of orphan drugs
- diagnosis and screening
- natural history
- pathophysiology of bone disease in Gaucher and MPS diseases
- pathophysiology of vascular disease in Fabry disease
- treatment with enzyme replacement therapy and small molecules (substrate inhibitors, chaperones)
- monitoring of treatment effects with focus on imaging and biochemical biomarkers
- Health Technology Assesment studies
- rare disease registries and costs of orphan drugs
| Status | Active |
|---|---|
| Effective start/end date | 1/01/2007 → … |