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- Title
Therapy for the mucopolysaccharidoses.
- Authors
Valayannopoulos, Vassili; Wijburg, Frits A.
- Abstract
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.
- Subjects
THERAPEUTIC use of enzymes; MUCOPOLYSACCHARIDOSIS treatment; STEM cell transplantation; CLINICAL trials; COGNITION; HEALTH care teams; IMMUNE system; MUCOPOLYSACCHARIDOSIS; QUALITY of life; RESEARCH funding; GENOMICS; SYMPTOMS
- Publication
Rheumatology, 2011, Vol 50, Issue suppl_5, pv49
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/ker396