Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II [PDF]
Orphanet Journal of Rare DiseasesBackground Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues.
Karen S. Yee +4 more
doaj +2 more sources
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS) [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity.
Joseph Muenzer +5 more
doaj +2 more sources
Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age [PDF]
Molecular Genetics and Metabolism ReportsNeuronopathic mucopolysaccharidosis type II (MPS II) is a severe lysosomal storage disorder associated with early-onset developmental regression and a poor prognosis.
Azuma Ikari +2 more
doaj +2 more sources
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]
PLoS ONE, 2016 Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung +4 more
doaj +2 more sources
Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening [PDF]
International Journal of Neonatal ScreeningEnzyme replacement therapy (ERT) for central nervous system symptoms and newborn screening (NBS) is available in Japan for patients with mucopolysaccharidosis type II (MPS II).
Yuki Ueda +11 more
doaj +2 more sources
Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland [PDF]
Biomedicines, 2023 Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the IDS gene, which leads ...
Zbigniew Żuber +4 more
doaj +2 more sources
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. [PDF]
PLoS ONE, 2015 Intravenous enzyme replacement therapy with iduronate-2-sulfatase is an approved treatment for Hunter syndrome, however, conventional intravenous delivery cannot treat the neurologic manifestations of the disease due to its limited central nervous system
Hongsheng Xie +3 more
doaj +2 more sources
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment [PDF]
Orphanet Journal of Rare DiseasesBackground Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation.
Karen S. Yee +4 more
doaj +2 more sources
Two-year follow-up after drug desensitization in mucopolysaccharidosis [PDF]
Orphanet Journal of Rare DiseasesBackground Mucopolysaccharidosis (MPS) type 1 S and type 2 are rare lysosomal storage disorders characterized by impaired enzyme production, resulting in glycosaminoglycans accumulation within lysosomes.
Federico Spataro +8 more
doaj +2 more sources
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS) [PDF]
Orphanet Journal of Rare Diseases, 2017 Background Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S).
Joseph Muenzer +5 more
doaj +2 more sources