• Mutations in the ARSB gene cause MPS VI. (medlineplus.gov)
  • Patient has laboratory results confirming a diagnosis of MPS VI disease based on detection of deficient ARSB activity (on fibroblasts, leucocytes or dried blood spots)and/or abnormality on the ARSB gene. (clinicaltrials.gov)
  • Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive lysosomal storage disorder determined by mutations in the arylsulfatase B gene (ARSB). (clinpharm-journal.ru)
  • Mucopolysaccharidosis VI (MPS VI) is caused by deficient activity of arylsulfatase B (ARSB), resulting in intralysosomal storage of dermatan sulfate (DS) and multisystem disease without central nervous system involvement. (elsevier.com)
  • We have injected newborn MPS VI rats and cats with adeno-associated viral (AAV) vectors expressing ARSB under the control of liver-specific, muscle-specific, or universally active promoters. (elsevier.com)
  • After systemic or intramuscular (IM) administration of AAV, therapeutic levels of circulating ARSB are achieved, resulting in skeletal improvements and significant decrease in glycosaminoglycan (GAG) storage, inflammation and apoptosis (despite a neutralizing immune response to ARSB in MPS VI rats). (elsevier.com)
  • Årsaken til MPS VI er arvelige forandringer (mutasjoner) i genet ARSB, som koder for produksjonen av enzymet N-acetylgalaktosaminsulfatase (også kalt arylsulfatase B). Dette enzymet er nødvendig for nedbrytningen av mukopolysakkaridet (glukosaminoglykanet, GAG'et) dermatansulfat inne i kroppens celler. (frambu.no)
  • Diagnostic sequencing analysis of the ARSB gene coding region is available for MPS VI patients and their at-risk relatives on a clinical basis. (egl-eurofins.com)
  • The recombinant protein is comprised of 495 amino acids and contains six asparagine-linked glycosylation sites, four of which carry a bis mannose-6-phosphate manose7 oligosaccharide for specific cellular recognition. (drugbank.ca)
  • Galsulfase uptake by cells into lysosomes is most likely mediated by the binding of mannose-6-phosphate-terminated oligosaccharide chains of galsulfase to specific mannose-6-phosphate receptors. (drugbank.ca)
  • We believe BMN-701 has the potential to possibly deliver more enzyme to lysosomes compared to traditional mannose-6-phosphate targeted approaches using the recently acquired GILT technology. (bio-medicine.org)
  • Other product candidates include GALNS (N-acetylgalactosamine 6-sulfatase), which is currently in clinical development for the treatment of MPS IVA and PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase), which is currently in Phase II clinical development for the treatment of PKU. (bio-medicine.org)
  • As the first drug ever approved for MPS VI, Naglazyme has been granted orphan drug status in the United States, which confers seven years of market exclusivity. (ptcommunity.com)
  • Naglazyme is indicated for patients with MPS VI. (ptcommunity.com)
  • Clinical trials have demonstrated that Naglazyme provides clinically important benefits for MPS VI patients, specifically, improved endurance as demonstrated by the 12-minute walk test and 3-minute stair climb. (ptcommunity.com)
  • With Naglazyme now approved, physicians, for the first time, have a therapeutic to treat the underlying cause of MPS VI, increasing their ability to provide better care for MPS VI patients with this life-threatening disease. (ptcommunity.com)
  • The approval of Naglazyme is a significant milestone for those whose life has been affected by MPS VI and for BioMarin," stated Jean-Jacques Bienaime, Chief Executive Officer of BioMarin. (ptcommunity.com)
  • Naglazyme holds a very real possibility for making MPS VI a more manageable disease. (ptcommunity.com)
  • I would like to thank the individuals with MPS VI and their families and physicians as well as BioMarin employees for their years of hard work and dedication toward making Naglazyme for MPS VI a reality. (ptcommunity.com)
  • Treatment for MPS VI with galsufase (Naglazyme) was introduced in 2005 in the USA, and a year later in Europe, and has been approved by the FDA and EMA, the American and European agencies, respectively. (bmj.com)
  • Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. (medlineplus.gov)
  • Mucopolysaccharidosis (MPS) is a general term for many different related inherited disorders that are caused by the accumulation of mucopolysaccharides in body tissues. (healthofchildren.com)
  • As I mentioned in a previous article , drug development efforts to treat patients with MPS VI and related disorders have been the strategic focus for companies like BioMarin Pharmaceutical (NASDAQ:BMRN) , Genzyme (NASDAQ:GENZ) , and Transkaryotic Therapies (NASDAQ:TKTX) . (fool.com)
  • Interestingly, if not surprisingly, six of the seven companies focus on cancer drug development, with eye disorders, inflammation, and myelofibrosis among other treatment specialties of the potential takeover targets. (genengnews.com)
  • In this article, we review the neuroimaging manifestations of the different types of mucopolysaccharidoses including the dysostosis multiplex of the skull and spine as well as the various central nervous system complications. (springer.com)
  • Deafness, both sensorineural or conductive, is seen in all types of mucopolysaccharidoses, including MPS VI. (egl-eurofins.com)
  • The reactivity by cats to rh4S did not appear to be just due to species cross reactivity, as plasma antibodies from normal control, MPS VI and MPS VI ERT cats reacted equally with feline and human 4-sulfatase. (sahmriresearch.org)
  • Triggs-Raine B, Salo TJ, Zhang H et al (1999) Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. (springer.com)
  • 19 However, some mutations that were found in a specific breed, such as mucopolysaccharidosis in the Siamese, 20,21 were found in a specific individual, and the mutation is not of significant prevalence in the breed ( Table 2 ). (vin.com)
  • There are five different types of GAGs: chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, dermatan sulphate, and keratan sulphate. (gopetsamerica.com)
  • Increased catabolism of GAG in turn reduces systemic dermatan sulfate accumulation, thereby reducing the primary symptoms of MPS VI. (drugbank.ca)
  • In MPS VI, insufficient enzyme activity is available and the degradation of dermatan sulfate is blocked, leading to accumulation of this substrate in the lysosomes of several tissues. (egl-eurofins.com)
  • MPS VI causes various skeletal abnormalities, including short stature and joint deformities (contractures) that affect mobility. (medlineplus.gov)
  • Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance.In conclusion, clinically significant hip abnormalities develop in all MPS VI patients from very early in life, starting with deformities of the os ilium and acetabulum. (eur.nl)
  • The severe MPS VI phenotype is characterized by growth retardation, coarse facial features, joint stiffness, corneal clouding, skeletal deformities, and organ and soft tissue involvement in cats. (animalabs.com)
  • The central nervous system does not appear to be affected, even in individuals with clinically severe MPS VI. (animalabs.com)
  • An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. (curehunter.com)