Elosulfase alfa.

Abstract

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by genetic mutations in N-acetylgalactosamine-6-sulfatase (GALNS) enzyme gene. GALNS is essential for breakdown of glycosaminoglycans. The disease is characterized by the early onset of severe skeletal dysplasia resulting in significant disability by the second decade of life. Until recently there have been no available treatments other than surgery and palliative care. BioMarin Pharmaceutical developed elosulfase alfa, a recombinant human GALNS coproduced with sulfatase-modifying factor 1, as an enzyme replacement therapy for patients with MPS IVA. In clinical studies, enzyme replacement therapy with elosulfase alfa significantly improved physical endurance, respiratory function, growth and quality of life in patients with MPS IVA. Treatment increased clearance of glycosaminoglycans and induced gene expression consistent with improved chondrocyte function. Elosulfase alfa is approved for the treatment of MPS IVA in the U.S. and Europe.

• Authors: K Haddley
• Journal: Drugs of today (Barcelona, Spain : 1998) (Drugs Today (Barc)) Vol. 50 Issue 7 Pg. 475-83 (Jul 2014) ISSN: 1699-3993 [Print] Spain
• PMID: 25101330 (Publication Type: Journal Article, Review)
• Copyright: Copyright 2014 Prous Science, S.A.U. or its licensors. All rights reserved.

Chemical References

• Recombinant Proteins
• Chondroitinsulfatases
• GALNS protein, human

Topics

• Animals
• Chondroitinsulfatases (deficiency, genetics)
• Clinical Trials as Topic
• Drug Evaluation, Preclinical
• Enzyme Replacement Therapy (methods)
• Humans
• Mucopolysaccharidosis IV (drug therapy, enzymology)
• Mutation
• Recombinant Proteins