Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme.
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy...
GC Pharma and Clinigen has received Japan manufacturing and marketing approval for Hunterase ICV (intracerebroventricular) Injection 15 mg (idursulfase-beta (recombinant)) as a treatment for mucopolysaccharidosis type II (Hunter syndrome).
Launched on epgonline.org as the second clinical resource dedicated to lysosomal storage disorders, the Hunter Syndrome Knowledge Centre is now live for healthcare professionals in paedatrics, ENT and genetics.
Shire plc and ArmaGen Technologies, Inc have announced a worldwide licensing and collaboration agreement for AGT-182, an investigational enzyme replacement...
Drug development for ultra-rare diseases is challenging because small sample sizes and heterogeneous study populations hamper the ability of randomized, placebo-controlled trials with a single primary endpoint to demonstrate valid treatment effects.
BioMarin Pharmaceutical Inc. has announced the submission of a Marketing Authorization Application (MAA) to the European Medicines Agency for Vimizim...
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.
The Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a marketing authorisation...
Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on...