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
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase [PDF]
Molecular Genetics and Metabolism Reports, 2020 An outcome measure of toileting skills, the Toileting Abilities Survey or TAS, with sensitivity to detect change in a neurodegenerative disorder such as MPS II, was developed.
Melissa J. Hogan +6 more
doaj +5 more sources
A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Norm-based scores used to assess cognitive ability have clinical value when describing functioning of patients with neuronopathic disorders compared with unaffected, same-age peers.
Karen S. Yee +5 more
doaj +2 more sources
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series [PDF]
Molecular Genetics and Metabolism Reports, 2023 Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is a rare X-linked, recessive, lysosomal storage disorder caused by the deficit of the enzyme iduronate 2-sulfatase (IDS), resulting in accumulation of glycosaminoglycans (GAGs) impairing cellular ...
Mei-Yan Chan +2 more
doaj +2 more sources
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS) [PDF]
Orphanet Journal of Rare Diseases, 2022 Background: Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S), respectively.
Federico Spataro +14 more
doaj +2 more sources
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II [PDF]
Molecular Therapy: Methods & Clinical Development, 2021 This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results.
Joo-Hyun Seo +4 more
doaj +2 more sources
Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II. [PDF]
PLoS ONEMucopolysaccharidosis Type II is a hereditary lysosomal storage disease characterized by deficiency in the enzyme iduronate 2-sulfatase (IDS). IDS is critical in the breakdown of sulfated glycosaminoglycans and its deficiency leads to an accumulation of ...
Alex J Shamoun +4 more
doaj +2 more sources
Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study [PDF]
DiagnosticsBackground/Objectives: Mucopolysaccharidosis type II (MPS II) is an inherited metabolic disorder characterized by progressive neurologic and extra-neurologic findings. We aimed to explore the age at symptom onset and at diagnosis as well as contribute to
Havva Yazıcı +16 more
doaj +2 more sources
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
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature [PDF]
Molecular Genetics and Metabolism Reports, 2022 Mucopolysaccharidosis type II (MPS II) is a multisystemic lysosomal storage disorder caused by deficiency of the iduronate 2-sulfatase enzyme. Currently, enzyme replacement therapy (ERT) with recombinant idursulfase is the main treatment available to ...
Vincenza Gragnaniello +7 more
doaj +2 more sources