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Sponsor: Melbourne Health
Conditions: Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
Interventions: Complement measurements
Countries: Australia
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death. Few treatments are available that can modify the disease course, and there is an urgent need to identify new steps in pathogenesis that can be targeted therapeutically. The complement system is novel and highly plausible as a primary driver of inflammation and cellular injury in the LSDs. This study assesses the complement activation state in patients with Fabry disease (FD), Gaucher disease (GD) and Niemann-Pick disease, type C (NPC), with comparison to healthy controls. This has the potential for immense clinical benefit through targeted complement inhibition across the full spectrum of lysosomal storage disorders, in which key pathophysiological processes including the inflammatory response to lysosomally 'stored' materials are shared.
Sex: ALL
Age: 17 Years to 70 Years
Healthy volunteers: Yes
Study type: OBSERVATIONAL
Inclusion Criteria: * All consenting patients with a prior diagnosis of FD, GD or NPC will be included in the study. Control participants will be healthy volunteers. Exclusion Criteria: * Patients who are unable to provide consent or to perform a blood or urine test will be excluded.
- Melbourne, Victoria, Australia