Inherited lysosomal disorders are individually rare but have received prominence as a result of the success of enzyme replacement therapy.
The clinical features of many of these conditions are heterogeneous and slowly progressive, making it difficult to carry out clinical trials in these rare disorders. Specific disease biomarkers would permit the effective use of surrogate endpoints of disease to accelerate development of therapy and refine best practice. We have been involved in the clinical validation of markers of Gaucher disease, exploring their utility in predicting progressive bone disease and response to therapy. In Fabry disease, we have examined the interaction between disease markers and immune responses to the therapeutic enzymes.
P. D. Whitfield, J. Calvin, S. Hogg, E. O’Driscoll, D. Halsall, K. Burling, G. Maguire, N Wright, T M Cox, P.B. Deegan. Monitoring Enzyme Replacement Therapy In Fabry Disease – Role Of Urine Globotriaosylceramide. Journal of Inherited Metabolic Disease 28 (2005) 21-33
PB Deegan, MT Moran, I McFarlane, JP Schofield, RG Boot, JMFG Aerts, TM Cox. Clinical Evaluation of Chemokine and Enzymatic Biomarkers of Gaucher Disease. Blood cells, Molecules and Diseases 35 (2005) 259-267
P Deegan, A F Baehner, M-Á Barba Romero D Hughes, C Kampmann and M Beck, on behalf of the European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. Europen Journal of Medical Genetics. 2006 Apr;43(4):347-52