6533b857fe1ef96bd12b3c1c
RESEARCH PRODUCT
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Hendriksz Cj2 Harmatz P1Mcgill Jj4 Lampe C3Leão Teles E6 Parini R5Cole Tj8 Valayannopoulos V7Graham S9 Matousek R9Quartel A9 Guffon N10 He Mps Vi Study Group Co Investigators Were Yasmina AmraouiMd Children's HospitalGermany University Of MainzArash LailaUniversity Of Mainz Children's Hospital GermanyMd Javier ArroyoHospital De Día De Pediatría Hospital San Pedro De AlcantaraSpain CaceresCecliaíazevedo AnaMd Serviço De Genética Médica/hcpa Department Of Genetics/ufrgsBrazil Porto AlegreRita Maria Elisa BaroneMd Department Of PediatricsCatania University Of Catania ItalyMd Michael BeckUniversity Of Mainz Children's Hospital GermanyMd D. N. Bennett JonesWhitehaven Consultant General Renal Physician UkMd Philippe BernardArras Centre Hospitalier D'arras FranceHôpital Trousseau Thierry Billette De VillemeurFrance ParisBoy RaquelMd Hospital Universitário Pedro ErnestoBrazil Rio De JaneiroConrad SusanMd Children's Hospital Research Center OaklandCa Oakland UsaMd Eduardo CoopmanCalama Hospital Del Cobre D. E. Salvador ChileMd Agata FiumaraUniversity Of Catania Department Of PediatricsItaly CataniaFrischman WilliamMd The Townsville HospitalAustralia TownsvilleGiugliani RobertoMd Phd Serviço De Genética Médica/hcpaPorto Alegre Department Of Genetics/ufrgs BrazilMd Elio GizziOakland Children's Hospital Research Center OaklandCa UsaHarmatz PaulMd Children's Hospital Research Center OaklandCa Oakland UsaDepartment Of Genetic Medicine John J. Hopwood Women'sNorth Adelaide Children's Hospital Adelaide AustraliaMd Simon JonesManchester Royal Manchester Children's Hospital UkChildren's Hospital Of Philadelphia Paige KaplanPa Philadelphia UsaMd Laura KeppenUniversity Of South Dakota School Of Medicine Department Of PediatricsSd Sioux Falls UsaDepartment Of Genetic Medicine David Ketteridge Women'sNorth Adelaide Children's Hospital Adelaide AustraliaUniversitätsklinikum Freiburg Prof Rudolf KorinthenbergKlinik Ii Neuropädiatrie Und Muskelerkrankungen Zentrum Für Kinderheilkunde Und JugendmedizinGermany FreiburgKretz MichelMd Hôpital Civil De ColmarColmar Le Parc Centre De La Mère Et De L'enfant FranceMd Elisa Leão TelesDepartamento Pediatria Unidade De Doenças MetabólicasPorto Hospital De Sao João PortugalMph Claudia LeeOakland Children's Hospital Research Center OaklandCa Usa Shuan Pei LinMd Mackay Memorial HospitalTaipei Department Of Genetics TaiwanMd Lionel LubitzMelbourne Royal Children's Hospital AustraliaMd Ana Maria MartinsInstituto De Oncologia Pediátrica UnifespDepartamento De Pediatria Graacc/unifespBrazil São PauloM. Clara Sá MirandaMd Unidade De Biologia Do Lisossoma E. PeroxisomaPorto Instituto De Biologia Molecular E. Celular PortugalRn Department Of Genetic Medicine Stephanie Oates Women'sNorth Adelaide Children's Hospital Adelaide AustraliaMd Anne O'mearaDublin Our Lady's Hospital For Sick Children IrelandMd Ans Van Der PloegRotterdam Erasmus Mc University Medical CenterNetherlands TheMd Isabel Cristina Neves De SouzaCentro De Ciências Biológicas Universidade Federal Do ParáBelém Hospital Universitário João De Barros Barreto BrazilMd Ray PaisEast Tennessee Children's Hospital Pediatric Hematology/oncologyTn Knoxville UsaMd Gregory PastoresNyu Medical Center PhdNew York Rusk InstituteNy UsaPavone LorenzoMd Department Of PediatricsCatania University Of Catania ItalyU. N. I. V. Klinik Fur Kinder Und Jugendheilkunde Barbara PleckoAustria GrazPozzi SilvioMd Ospedale Vito FazziLecce Uo Pediatria ItalyMd Uwe PreissHalle Universitaetsklinik Und Poliklinik Fuer Kinder GermanyMd Emerson Santana SantosDepartamento De Pediatria Fundação Universidade De Ciências Da Saúde De Alagoas GovernadorBrazil MaceióScarpa MaurizioUniversity Of Padova Department Of PediatricsItaly PadovaIda Vanessa D. SchwartzMd Serviço De Genética Médica/hcpa Department Of Genetics/ufrgsBrazil Porto AlegreSillence DavidMd Children's HospitalAustralia Westmead Luiz Carlos Santana Da SilvaUniversidade Federal Do Pará PhdHospital Universitário João De Barros Barreto Centro De Ciências BiológicasBrazil BelémSimon JulieRn Children's Hospital Research Center OaklandCa Oakland UsaDepartment Of Pediatrics Prof Giovanni SorgeCatania University Of Catania ItalyDepartments Of Pediatrics Robert Steiner MolecularGenetics MedicalPortland Oregon Health Science UniversityOr UsaEugênia R. ValadaresMd PhdFaculdade De Medicina Da Universidade Federal De Minas Gerais Ufmg Hospital Das ClínicasBelo Horizonte Minas Gerais Avenida Professor Alfredo Balena BrazilMd Bonito VictorDepartamento Pediatria Unidade De Doenças MetabólicasPorto Hospital De Sao João PortugalMd Lewis WaberPediatric Genetics Phd MetabolismDallas University Of Texas Southwest Medical CenterTx UsaWaterson JohnMd PhdOakland Children's Hospital Research Center OaklandCa UsaChester B. WhitleyMinneapolis University Of Minnesota Medical SchoolMn UsaJ. Edmond WraithMd Royal Manchester Children's HospitalU. K. Manchestersubject
0301 basic medicineArylsulfatase BMaleLysosomal storage disorderN-Acetylgalactosamine-4-SulfataseEndocrinology Diabetes and MetabolismMucopolysaccharidosisGrowthBiochemistryGastroenterologychemistry.chemical_compoundEndocrinologyChildMucopolysaccharidosis VIAge FactorsMucopolysaccharidosis VIEnzyme replacement therapyRecombinant ProteinsDiabetes and MetabolismEnzyme replacement therapy; Galsulfase; Growth; Height; Lysosomal storage disorder; Maroteaux-Lamy syndrome; Mucopolysaccharidosis; Mucopolysaccharidosis VI; Endocrinology Diabetes and Metabolism; Biochemistry; Molecular Biology; Genetics; EndocrinologyChild PreschoolFemalemedicine.symptommedicine.medical_specialtyAdolescentUrinary systemShort stature03 medical and health sciencesGalsulfaseInternal medicineGeneticsmedicineHumansEnzyme Replacement TherapyMolecular BiologyCreatinineHeightbusiness.industryInfant NewbornInfantmedicine.diseaseBody HeightMucopolysaccharidosisMaroteaux–Lamy syndrome030104 developmental biologychemistryImmunologyMaroteaux-Lamy syndromebusinessFollow-Up Studiesdescription
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-naive 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 (>200μg/mg creatinine) levels identified subjects as rapidly progressing. Height data for 141 patients who began galsulfase treatment by the age of 18years 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 >12-15years of age (p<0.05). Increases in Z-score were not detected for patients who began treatment between 15 and 18years of age, nor for patients with low (≤200μg/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 6years of age, suggesting an age- and severity-dependent impact of galsulfase ERT on growth.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-03-01 | Molecular genetics and metabolism |