Navegação por Autor "Jones, Simon A."
Resultados 1-10 de 10
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Clinical outcomes in a subpopulation of adults with Morquio A syndrome : results from a long-term extension study of elosulfase alfa
Hughes, Derralynn A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Mengel, Karl Eugen; Parini, Rossella; Matousek, R.; Hawley, Sara M.; Quartel, Adrian (2017) [Artigo de periódico]Background: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 ... -
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Jones, Simon A.; McGovern, Margaret M.; Lidove, Olivier; Giugliani, Roberto; Mistry, Pramod; Vici, Carlo Dionisi; Munõz Rojas, Maria Verônica; Nalysnyk, Lubomyra; Schecter, Alison D.; Wasserstein, Melissa P. (2020) [Artigo de periódico]Background: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and ... -
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
Giugliani, Roberto; Harmatz, Paul; Jones, Simon A.; Mendelsohn, Nancy J.; Vellodi, Ashok; Qiu, Yongchang; Hendriksz, Christian J.; Vijayaraghavan, Suresh; Whiteman, David A.H.; Pano, Arian (2017) [Artigo de periódico]Objectives: This 109-week, nonrandomized, observational study ofmucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-termimmunogenicity of idursulfase, ... -
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
Clarke, Lorne A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Keenan, Hillary; Munõz Rojas, Maria Verônica; Okuyama, Torayuki; Viskochil, David H.; Whitley, Chester B.; Wijburg, Frits; Muenzer, Joseph (2019) [Artigo de periódico]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ... -
Long-term galsufase treatment associated with improved survival of patients with mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) : 15-year follow-up from the survey study
Quartel, Adrian; Harmatz, Paul; Lampe, Christina; Guffon, Nathalie; Ketteridge, David; Teles, Elisa Leão; Jones, Simon A.; Giugliani, Roberto (2018) [Artigo de periódico]Mucopolysaccharidosis VI (MPS VI) is a progressive lysosomal storage disorder with multiorgan and multisystemic pathology. Currently, galsulfase enzyme replacement therapy (ERT) is the only approved treatment for MPS VI. ... -
Long-term outcomes of systemic therapies for Hurler syndrome : an international multicenter comparison
Eisengart, Julie B.; Rudser, Kyle D.; Xue, Yong; Orchard, Paul J.; Miller, Weston P.; Lund, Troy C.; Van Der Ploeg, Ans T.; Mercer, Jean; Jones, Simon A.; Mengel, Karl Eugen; Gökce, Seyfullah; Guffon, Nathalie; Giugliani, Roberto; Souza, Carolina Fischinger Moura de; Shapiro, Elsa G.; Whitley, Chester B. (2018) [Artigo de periódico]Purpose: Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate ... -
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency : two-year results
Diaz, George A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramanen, Abhimanyu; Jing, Li; Armstrong, Nicole M.; Yong, Kim; Renon, Catherine Ortemann; Kumar, Monica (2022) [Artigo de periódico]Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin ... -
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
Diaz, George A.; Jones, Simon A.; Scarpa, Maurizio; Mengel, Karl Eugen; Giugliani, Roberto; Guffon, Nathalie; Batsu, Isabela; Fraser, Patricia A.; Jing, Li; Qi, Zhang; Renon, Catherine Ortemann (2021) [Artigo de periódico]PURPOSE: To assess olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children. METHODS: This phase 1/2, international, multicenter, ... -
Sanfilippo syndrome : consensus guidelines for clinical care
Muschol, Nicole; Giugliani, Roberto; Jones, Simon A.; Muenzer, Joseph; Smith, Nicholas J. C.; Whitley, Chester B.; Donnell, Megan; Drake, Elise; Elvidge, Kristina; Melton, Lisa; O’Neill, Cara (2022) [Artigo de periódico]Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological ... -
Ten years of the Hunter Outcome Survey (HOS) : insights, achievements, and lessons learned from a global patient registry
Muenzer, Joseph; Jones, Simon A.; Tylki-Szymanska, Anna; Harmatz, Paul; Mendelsohn, Nancy J.; Guffon, Nathalie; Giugliani, Roberto; Burton, Barbara K.; Scarpa, Maurizio; Beck, Michael; Jangelind, Yvonne; Hernberg-Stahl, E.; Larsen, Maria Paabøl; Pulles, Tom; Whiteman, David A.H. (2017) [Artigo de periódico]Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. ...