Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate. Manifestations are multi-systemic and include skeletal abnormalities such as dysostosis multiplex and short stature. Reference height-for-age growth charts for treatment-naÃ¯ve MPS VI patients have been published for both the slowly and rapidly progressing populations. Categorization of disease progression for these charts was based on urinary GAG (uGAG) level; high (>. 200. Î¼g/mg creatinine) levels identified subjects as rapidly progressing. Height data for 141 patients who began galsulfase treatment by the age of 18. years were collected and stratified by baseline uGAG level and age at ERT initiation in 3-year increments. The reference MPS VI growth charts were used to calculate change in Z-score from pre-treatment baseline to last follow-up. Among patients with high baseline uGAG levels, galsulfase ERT was associated with an increase in Z-score for those beginning treatment at 0-3, >. 3-6, >. 6-9, >. 9-12, and >. 12-15. years of age (p <. 0.05). Increases in Z-score were not detected for patients who began treatment between 15 and 18. years of age, nor for patients with low (â¤. 200. Î¼g/mg creatinine) baseline uGAG levels, regardless of age at treatment initiation. The largest positive deviation from untreated reference populations was seen in the high uGAG excretion groups who began treatment by 6. years of age, suggesting an age- and severity-dependent impact of galsulfase ERT on growth.
|Titolo:||The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)|
|Data di pubblicazione:||2017|
|Citazione:||The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) / Harmatz P1, Hendriksz CJ2; Lampe C3, McGill JJ4; Parini R5, Leão-Teles E6; Valayannopoulos V7, Cole TJ8; Matousek R9, Graham S9; Guffon N10, Quartel A9; he MPS VI Study Group co-investigators were Yasmina Amraoui; Md, Children's Hospital; University of Mainz, Germany; Laila Arash; Children's Hospital, University of Mainz; Germany; Javier Arroyo, Md; Hospital San Pedro de Alcantara, Hospital de día de Pediatría; Caceres, Spain; Ana CecliaíAzevedo; Md, Serviço de Genética Médica/HCPA and Department of Genetics/UFRGS; Porto Alegre, Brazil; Rita Barone; Md, Department of Pediatrics; University of Catania, Catania; Italy; Michael Beck, Md; Children's Hospital, University of Mainz; Germany; D.N. Bennett-Jones, Md; Consultant General Renal Physician, Whitehaven; UK; Philippe Bernard, Md; Centre Hospitalier d'Arras, Arras; France; Thierry Billette de Villemeur, Hôpital Trousseau; Paris, France; Raquel Boy; Md, Hospital Universitário Pedro Ernesto; Rio de Janeiro, Brazil; Susan Conrad; Md, Children's Hospital & Research Center Oakland; Oakland, Ca; USA; Eduardo Coopman, Md; Hospital del Cobre De. Salvador, Calama; Chile; Agata Fiumara, Md; Department of Pediatrics, University of Catania; Catania, Italy; William Frischman; Md, The Townsville Hospital; Townsville, Australia; Roberto Giugliani; Md, Phd; Serviço de Genética Médica/HCPA and Department of Genetics/UFRGS, Porto Alegre; Brazil; Elio Gizzi, Md; Children's Hospital Research Center Oakland, Oakland; Ca, USA; Paul Harmatz; Md, Children's Hospital & Research Center Oakland; Oakland, Ca; USA; John J. Hopwood, Department of Genetic Medicine; Women's and Children's Hospital Adelaide, North Adelaide; Australia; Simon Jones, Md; Royal Manchester Children's Hospital, Manchester; UK; Paige Kaplan, Children's Hospital of Philadelphia; Philadelphia, Pa; USA; Laura Keppen, Md; Department of Pediatrics, University of South Dakota School of Medicine; Sioux Falls, Sd; USA; David Ketteridge, Department of Genetic Medicine; Women's and Children's Hospital Adelaide, North Adelaide; Australia; Prof Rudolf Korinthenberg, Universitätsklinikum Freiburg; Zentrum für Kinderheilkunde und Jugendmedizin, Klinik II Neuropädiatrie und Muskelerkrankungen; Freiburg, Germany; Michel Kretz; Md, Hôpital Civil de Colmar; Le Parc Centre de la Mère et de l'Enfant, Colmar; France; Elisa Leão-Teles, Md; Unidade de Doenças Metabólicas, Departamento Pediatria; Hospital de Sao João, Porto; Portugal; Claudia Lee, Mph; Children's Hospital Research Center Oakland, Oakland; Ca, USA; Shuan-Pei Lin; Md, MacKay Memorial Hospital; Department of Genetics, Taipei; Taiwan; Lionel Lubitz, Md; Royal Children's Hospital, Melbourne; Australia; Ana Maria Martins, Md; Unifesp, Instituto de Oncologia Pediátrica; Graacc/unifesp, Departamento de Pediatria; São Paulo, Brazil; M. Clara Sá Miranda; Md, Unidade de Biologia do Lisossoma e Peroxisoma; Instituto de Biologia Molecular e Celular, Porto; Portugal; Stephanie Oates, RN Department of Genetic Medicine; Women's and Children's Hospital Adelaide, North Adelaide; Australia; Anne O'Meara, Md; Our Lady's Hospital for Sick Children, Dublin; Ireland; Ans van der Ploeg, Md; Erasmus MC University Medical Center, Rotterdam; The Netherlands; Isabel Cristina Neves de Souza, Md; Universidade Federal do Pará, Centro de Ciências Biológicas; Hospital Universitário João de Barros Barreto, Belém; Brazil; Ray Pais, Md; Pediatric Hematology/Oncology, East Tennessee Children's Hospital; Knoxville, Tn; USA; Gregory Pastores, Md; Phd, NYU Medical Center; Rusk Institute, New York; Ny, USA; Lorenzo Pavone; Md, Department of Pediatrics; University of Catania, Catania; Italy; Barbara Plecko, Univ. Klinik fur Kinder und Jugendheilkunde; Graz, Austria; Silvio Pozzi; Md, Ospedale Vito Fazzi; UO Pediatria, Lecce; Italy; Uwe Preiss, Md; Universitaetsklinik und Poliklinik fuer Kinder, Halle; Germany; Emerson Santana Santos, Md; Fundação Universidade de Ciências da Saúde de Alagoas Governador, Departamento de Pediatria; Maceió, Brazil; Maurizio Scarpa; Department of Pediatrics, University of Padova; Padova, Italy; Ida Vanessa D. Schwartz; Md, Serviço de Genética Médica/HCPA and Department of Genetics/UFRGS; Porto Alegre, Brazil; David Sillence; Md, Children's Hospital; Westmead, Australia; Luiz Carlos Santana da Silva; Phd, Universidade Federal do Pará; Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto; Belém, Brazil; Julie Simon; Rn, Children's Hospital & Research Center Oakland; Oakland, Ca; USA; Prof Giovanni Sorge, Department of Pediatrics; University of Catania, Catania; Italy; Robert Steiner, Departments of Pediatrics and Molecular and Medical Genetics; Oregon Health Science University, Portland; Or, USA; Eugênia R. Valadares; Md, Phd; Hospital das Clínicas, Faculdade de Medicina da Universidade Federal de Minas Gerais-UFMG; Avenida Professor Alfredo Balena, Belo Horizonte-Minas Gerais; Brazil; Bonito Victor, Md; Unidade de Doenças Metabólicas, Departamento Pediatria; Hospital de Sao João, Porto; Portugal; Lewis Waber, Md; Phd, Pediatric Genetics and Metabolism; University of Texas Southwest Medical Center, Dallas; Tx, USA; John Waterson; Md, Phd; Children's Hospital Research Center Oakland, Oakland; Ca, USA; Chester B. Whitley; University of Minnesota Medical School, Minneapolis; Mn, USA; J. Edmond Wraith; Md, Royal Manchester Children's Hospital; Manchester, Uk.. - (2017).|
|Appare nelle tipologie:||1.1 Articolo in rivista|