Frances Platt is an expert on glycosphingolipids (GSL) and glycosphingolipid (GSL) lysosomal storage disorders. She pioneered the first pharmacological approach to treat these disorders that she termed substrate reduction therapy (SRT). This led to the development of an approved drug (miglustat) for type 1 Gaucher disease. Miglustat was approved by the EMEA in 2002 and by the FDA in 2003 and is now in use worldwide as the first oral therapy for a lysosomal disorder. Miglustat was also approved (2009) for Niemann-Pick disease type C1 (NPC) and is the first disease-modifying therapy for this severe progressive neurodegenerative lysosomal disorder.
Co-PI (Core Leadership)
Frances Platt, PhD
University of Oxford
Frances Platt is an expert on glycosphingolipids (GSL) and glycosphingolipid (GSL) lysosomal storage disorders. She pioneered the first pharmacological approach to treat these disorders that she termed substrate reduction therapy (SRT). This led to the development of an approved drug (miglustat) for type 1 Gaucher disease. Miglustat was approved by the EMEA in 2002 and by the FDA in 2003 and is now in use worldwide as the first oral therapy for a lysosomal disorder. Miglustat was also approved (2009) for Niemann-Pick disease type C1 (NPC) and is the first disease-modifying therapy for this severe progressive neurodegenerative lysosomal disorder.
