Therapy for the mucopolysaccharidoses.
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. Optimal management of these multisystemic disorders involves a multidisciplinary team and regular, comprehensive follow-up. Enzyme replacement therapy (ERT) is now available for MPS I (Hurler, Hurler-Scheie and Scheie syndromes) (laronidase), MPS II (Hunter syndrome) (idursulfase) and MPS VI Maroteaux-Lamy (galsulfase), and is in development for MPS IV (Morquio syndrome) and MPS VII (Sly syndrome). Benefits of ERT can include improved walking ability, improved respiration and enhanced quality of life. Haematopoietic stem cell transplantation (HSCT) can preserve cognition and prolong survival in very young children with the most severe form of MPS I, and is under investigation for several other MPS disorders. Better tissue matching techniques, improved graft-vs-host prophylaxis and more targeted conditioning regimens have improved morbidity and mortality associated with HSCT.
Reference Centre for Inherited Metabolic Diseases, Necker-Enfants/Malades Hospital, Paris, France.
Vassili
V
Valayannopoulos
Frits A
FA
Wijburg
D002986:Clinical Trials as Topic / Q000379:methods; D056947:Enzyme Replacement Therapy / Q000379:methods*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use; D007068:Iduronidase / Q000627:therapeutic use; D009083:Mucopolysaccharidoses / Q000150:complications / Q000628:therapy*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use; D011994:Recombinant Proteins / Q000627:therapeutic use
D011994:Recombinant Proteins; D020051:N-Acetylgalactosamine-4-Sulfatase; C508864:galsulfase; D007066:Iduronate Sulfatase; C517982:idursulfase; D007068:Iduronidase