Short abstract: Lysosomal storage disorders (LSDs), – designated as “orphan” diseases – are inborn errors of metabolism caused by defects in genes that encode proteins involved in various aspects of lysosomal homeostasis. For many years LSDs were viewed as unattractive targets for the development of therapies owing to their low prevalence. However, the development and success of the first commercial biologic therapy for a LSD – enzyme replacement therapy (ERT) for type 1 Gaucher disease – coupled with regulatory incentives, rapidly catalyzed commercial interest in therapeutically targeting LSDs. Despite ongoing challenges, various therapeutic strategies for LSDs now exist, with many agents approved, undergoing clinical trials or in preclinical development. I will review these diseases, the status of therapies and our current work on therapeutic development for Niemann-Pick disease type C.
Short bio: Fran Platt was educated at Imperial College (BSc, Zoology) and did her PhD at the University of Bath in Animal Physiology. She went to Washington University Medical School in St Louis USA where she was a post-doctoral fellow. She returned to the UK in 1989 where she joined the Department of Biochemistry, University of Oxford. She was awarded a Lister Institute Senior Research Fellowship in 1996. She moved her laboratory to the Department of Pharmacology, University of Oxford in 2006. Her main interest is in lysosomal biology and pathobiology. Her research has led to the development and approval of a drug (miglustat) for substrate reduction therapy for the treatment of glycosphingolipid lysosomal storage diseases. She was elected a fellow of the Academy of Medical Sciences in 2011.