MANUFACTURE OF ACTIVE HIGHLY PHOSPHORYLATED HUMAN N-ACETYLGALACTOSAMINE-6-SULFATASE AND USES THEREOF

• Main Authors: OKHAMAFE, AUGUSTUS, O, ARAYA, KIDISTI, VELLARD, MICHEL, CLAUDE, KOPPAKA, VISH
• Format: Patent
• Language: English; French
• Published: 26.01.2012
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; HUMAN NECESSITIES; HYGIENE; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

This invention provides compositions of active highly phosphorylated human N- acetylgalactosamine-6-sulfatase (GALNS), and pharmaceutical compositions and formulations thereof, methods of producing and purifying GALNS, and its use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the GALNS enzyme, e.g., Mucopolysaccharidosis IVa (MPS IVa or Morquio A syndrome). Cette invention concerne des compositions de n-acétylgalactosamine- 6-sulfatase humaine active très phosphorylée (GALNS), et des compositions pharmaceutiques et formulations de celle-ci, des procédés de production et de purification de GALNS, et leur utilisation pour diagnostiquer, prévenir, ou traiter des maladies et des affections comprenant, en particulier, les maladies de surcharge lysosomale qui sont provoquées par, ou liées à un déficit de l'enzyme GALNS, par exemple, la mucopolysaccharidose IVa (MPS IVa ou syndrome de Morquio A).