Gaucherite: Gaucher Investigative Therapy Evaluation

Approximately 300 patients are known to suffer from Gaucher disease in the UK. The disease is heterogeneous but without treatment, most patients have disability, pain and reduced life expectancy. The GAUCHERITE study brings together specialist doctors and scientists who will examine at least 85 per cent of all UK patients and ‘stratify’ them by the nature of their disease to allow better targeted therapeutic interventions. The aim of this research is to guide therapy by predicting long-term risk in Gaucher patients using imaging and biomarkers.

Previous projects have included investigating novel therapies for Sandhoff disease and Niemann-Pick C disease.