Results 1 to 10 of about 854 (165)

Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]

Therapeutic Advances in Rare Disease
Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
doaj   +5 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.
Lloyd J Edwards, Melissa Hogan, Chris Hendriksz   +2 more
exaly   +7 more sources

Evaluation of Impact of Anti-Idursulfase Antibodies During Long-Term Idursulfase Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients [PDF]

Molecular Genetics and Metabolism Reports, 2017
Objectives: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect ...
Arian Pano, Chris Hendriksz, S A Jones
exaly   +10 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, Costel Chirila, Eric Davenport, Deirdre Mladsi, Christine Barnett, William G. Kronenberger   +5 more
doaj   +3 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, Andrew Jack Nelson, Lock-Hock Ngu   +2 more
doaj   +3 more sources

Intrathecal idursulfase‐IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single‐arm, open‐label, phase 2/3 substudy and extension [PDF]

JIMD Reports
Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning ...
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian   +14 more
doaj   +3 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, Fabio Viggiani, Domenico Giorgio Macchia, Valentina Rollo, Albina Tummolo, Patrizia Suppressa, Carlo Sabba’, Maria Pia Rossi, Lucia Giliberti, Francesco Satriano, Eustachio Nettis, Danilo Di Bona, Maria Filomena Caiaffa, Rita Fischetto, Luigi Macchia   +14 more
doaj   +3 more sources

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II. [PDF]

PLoS ONE
Mucopolysaccharidosis 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, Gisienne Reis, Malaica Ashley, Anatalia Labilloy, Leonardo F Ferreira   +4 more
doaj   +3 more sources

Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase [PDF]

Orphanet Journal of Rare Diseases
Background Long-term safety and efficacy data on enzyme replacement therapy, particularly switching between recombinant iduronate-2-sulfatase formulations, remain limited in mucopolysaccharidosis II (MPS II). This open-label extension study included male
Minji Im, Ari Song, Hyojung Park, Jiyeon Kim, Chiwoo Kim, Eu-Seon Noh, Ga young Bae, Juyoung Sung, JiHoon Hwang, Yoon Ji Ahn, Haein Kim, Youngsin Oh, Bogyeong Kim, Sung Yoon Cho   +13 more
doaj   +2 more sources

Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings [PDF]

Molecular Genetics and Metabolism Reports
Introduction: Enzyme replacement therapy (ERT) with intravenous idursulfase is the standard of care for patients with mucopolysaccharidosis II (MPS II; Hunter syndrome). Data are limited for children aged ≤12 months.
Barbara K. Burton, Bernd Schweikert, Hernàn Amartino, Maira Sharipova, Jaime Lopez-Valdez, Deniz Kor, Huseyin Bilgin, Walla Al-Hertani, Ana Maria Martins, Dimitrios Zafeiriou, Nathalie Guffon, Olivia Okoli, Diana Sanchez-Hernandez, Jennifer Audi, Jaco Botha, Csaba Siffel, Olulade Ayodele   +16 more
doaj   +2 more sources