DescriptionThe Sanfilippo programme is a Public Private Partnership between ESTEVE and the UAB for development of gene therapies for the treatment of mucopolysaccharidoses.
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunction of enzymes needed to metabolize glycosaminoglycans, a group of long-chain sugars found in the extracellular matrix and in cell membranes.
The gene therapy platform consists of the development of a viral vector containing the correct copy of the malfunctioning gene for each of the diseases, that is, sulfamidase for MPSIIIA, alpha-N-acetylglucosaminidase for MPSIIIB and iduronate 2-sulfatase for MPSII. These viral vectors, upon administration, will enter certain patient cells, allowing the correct gene to express and produce the enzyme which is constitutively defective or absent.
All programs have been designated as an Orphan Drug by both the European Medicines Agency (EMA) and the Federal Drug Administration (FDA).