Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey [PDF]
JIMD ReportsMucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking.
Barbara K. Burton +10 more
doaj +3 more sources
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II. [PDF]
J Inherit Metab DisAbstract Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X‐linked, heterogeneous lysosomal storage disease. Approximately two‐thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment.
Muenzer J +14 more
europepmc +4 more sources
Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys [PDF]
Toxicologic Pathology, 2011 Recombinant human idursulfase, an intravenous enzyme replacement therapy indicated for treatment of somatic symptoms of mucopolysaccharidosis II (Hunter syndrome), is anticipated to have minimal benefit for the cognitive impairment associated with the severe phenotype.
Pericles Calias
exaly +4 more sources
Molecular Genetics and Metabolism Reports, 2015 We report on a 6 year old boy with severe MPS II undergoing immune modulation therapy due to high IgG antibody titers to IV idursulfase and no significant decline in urinary GAG levels since initiating enzyme replacement therapy.
Yoav Messinger +2 more
exaly +4 more sources
Molecular Genetics and Metabolism Reports, 2017 Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2
Huey Yin Leong
exaly +4 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 +5 more sources
Long-Term Open-Label Extension Study of the Safety and Efficacy of Intrathecal Idursulfase-IT in Patients With Neuronopathic Mucopolysaccharidosis II [PDF]
Molecular Genetics and Metabolism, 2022 Enzyme replacement therapy with weekly infused intravenous (IV) idursulfase is effective in treating somatic symptoms of mucopolysaccharidosis II (MPS II; Hunter syndrome).
Paul Harmatz +2 more
exaly +6 more sources
Intrathecal Idursulfase-IT in Patients With Neuronopathic Mucopolysaccharidosis II: Results From a Phase 2/3 Randomized Study [PDF]
Molecular Genetics and Metabolism, 2022 Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. This phase 2/3, randomized, controlled, open-label, multicenter study (NCT02055118) investigated the effects of intrathecally administered ...
Paul Harmatz +2 more
exaly +6 more sources
Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case [PDF]
Вопросы современной педиатрии, 2020 Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency.
Tatiana K. Kruchina +2 more
doaj +2 more sources
Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review [PDF]
International Journal of Molecular SciencesMucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase. Signs and symptoms typically emerge at 1.5–4 years of age and may include cognitive impairment ...
David A H Whiteman +2 more
exaly +3 more sources