Current and emerging management options for patients with Morquio A syndrome

References

• MorquioLSur une forme de dystrophie osseuse familialeArchives de Médecine des Infants192932129135 French.
   Google Scholar
• Rivera-ColonYSchutskyEKKitaAZGarmanSCThe structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IVAJ Mol Biol2012423573675122940367
   PubMed Web of Science ®Google Scholar
• ApplegarthDATooneJRLowryRBIncidence of inborn errors of metabolism in British Columbia, 1969–1996Pediatrics20001051e1010617747
   PubMed Web of Science ®Google Scholar
• NelsonJIncidence of the mucopolysaccharidoses in Northern IrelandHum Genet199710133553589439667
   PubMed Web of Science ®Google Scholar
• PoorthuisBJWeversRAKleijerWJThe frequency of lysosomal storage diseases in The NetherlandsHum Genet19991051–215115610480370
   PubMed Web of Science ®Google Scholar
• MontanoAMTomatsuSGottesmanGSSmithMOriiTInternational Morquio A Registry: clinical manifestation and natural course of Morquio A diseaseJ Inherit Metab Dis200730216517417347914
   PubMed Web of Science ®Google Scholar
• DavisonJEKearneySHortonJFosterKPeetACHendrikszCJIntellectual and neurological functioning in Morquio syndrome (MPS IVa)J Inherit Metab DisEpub 1102012
   Google Scholar
• TomatsuSMontanoAMOikawaHMucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatmentCurr Pharm Biotechnol201112693194521506915
   PubMed Web of Science ®Google Scholar
• LangerLOJrCareyLSThe roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford’s disease)Am J Roentgenol Radium Ther Nucl Med1966971120
   PubMedGoogle Scholar
• TongCKChenJCCochraneDDSpinal cord infarction remote from maximal compression in a patient with Morquio syndromeJ Neurosurg Pediatr20129660861222656250
   PubMed Web of Science ®Google Scholar
• DhawaleAAThackerMMBelthurMVRogersKBoberMBMackenzieWGThe lower extremity in Morquio syndromeJ Pediatr Orthop201232553454022706472
   PubMed Web of Science ®Google Scholar
• OncagGErtan ErdincAMCalEMultidisciplinary treatment approach of Morquio syndrome (mucopolysaccharidosis type IVA)Angle Orthod200676233534016539564
   PubMed Web of Science ®Google Scholar
• SvenssonOAaroSCervical instability in skeletal dysplasia. Report of 6 surgically fused casesActa Orthop Scand198859166703354325
   PubMed Web of Science ®Google Scholar
• RansfordAOCrockardHAStevensJMModagheghSOccipitoatlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experienceJ Bone Joint Surg Br19967823073138666648
   PubMedGoogle Scholar
• TherouxMCNerkerTDitroCMackenzieWGAnesthetic care and perioperative complications of children with Morquio syndromePaediatr Anaesth201222990190722738181
   PubMed Web of Science ®Google Scholar
• WalkerRWManagement of the difficult airway in childrenJ R Soc Med200194734134411418704
   PubMed Web of Science ®Google Scholar
• BartzHJWiesnerLWapplerFAnaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgeryActa Orthop Scand1999436679683
   Google Scholar
• PagelPSAlmassiGHPerioperative implications of Morquio syndrome in a 31-year-old woman undergoing aortic valve replacementJ Cardiothorac Vasc Anesth200923685585719201209
   PubMed Web of Science ®Google Scholar
• NorthoverHCowieRAWraithJEMucopolysaccharidosis type IVA (Morquio syndrome): a clinical reviewJ Inherit Metab Dis19961933573658803780
   PubMed Web of Science ®Google Scholar
• BraunlinEAHarmatzPRScarpaMCardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and managementJ Inherit Metab Dis20113461183119721744090
   PubMed Web of Science ®Google Scholar
• EngleJSafiHJAbbassiOMucopolysaccharidosis presenting as pediatric multiple aortic aneurysm: first reported caseJ Vasc Surg19972647047109357476
   PubMed Web of Science ®Google Scholar
• FactorSMBiempicaLGoldfischerSCoronary intimal sclerosis in Morquio’s syndromeVirchows Arch A Pathol Anat Histol19783791110150685
   PubMed Web of Science ®Google Scholar
• MetcalfJALindersBWuSUpregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expressionMol Genet Metab201099439640720044292
   PubMed Web of Science ®Google Scholar
• TanCTSchaffHVMillerFAJrEdwardsWDKarnesPSValvular heart disease in four patients with Maroteaux-Lamy syndromeCirculation19928511881951728449
   PubMed Web of Science ®Google Scholar
• DiazJHBelaniKGPerioperative management of children with mucopolysaccharidosesAnesth Analg1993776126112708250320
   PubMed Web of Science ®Google Scholar
• JohnRMHunterDSwantonRHEchocardiographic abnormalities in type IV mucopolysaccharidosisArch Dis Child19906577467492117422
   PubMed Web of Science ®Google Scholar
• BarryMOBeardsleeMABravermanACMorquio’s syndrome: severe aortic regurgitation and late pulmonary autograft failureJ Heart Valve Dis200615683984217152795
   PubMed Web of Science ®Google Scholar
• NicoliniFCorradiDBosioSGherliTAortic valve replacement in a patient with morquio syndromeHeart Surg Forum2008112E96E9818430665
   PubMed Web of Science ®Google Scholar
• NeufeldEFEnzyme replacement therapy – a brief historyMehtaABeckMSunder-PlassmannGFabry Disease: perspectives from 5 years of FOSOxfordOxford PharmaGenesis2006
   Google Scholar
• DeduveCFrom cytases to lysosomesFed Proc1964231045104914209796
   PubMedGoogle Scholar
• CohnZAEhrenreichBAThe uptake, storage, and intracellular hydrolysis of carbohydrates by macrophagesJ Exp Med196912912012255782768
   PubMed Web of Science ®Google Scholar
• ValayannopoulosVWijburgFATherapy for the mucopolysaccharidosesRheumatology (Oxford)201150Suppl 5v49v5922210671
   PubMed Web of Science ®Google Scholar
• GiuglianiRRojasVMMartinsAMA dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis IMol Genet Metab2009961131919038563
   PubMed Web of Science ®Google Scholar
• KakkisEDMuenzerJTillerGEEnzyme-replacement therapy in mucopolysaccharidosis IN Engl J Med2001344318218811172140
   PubMed Web of Science ®Google Scholar
• MuenzerJWraithJEBeckMA Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Genet Med20068846547316912578
   PubMed Web of Science ®Google Scholar
• HarmatzPGiuglianiRSchwartzIEnzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension studyJ Pediatr2006148453353916647419
   PubMed Web of Science ®Google Scholar
• HarmatzPKetteridgeDGiuglianiRDirect comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatasePediatrics20051156e681e68915930196
   PubMed Web of Science ®Google Scholar
• HarmatzPWhitleyCBWaberLEnzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)J Pediatr2004144557458015126989
   PubMed Web of Science ®Google Scholar
• McGillJJInwoodACComanDJEnzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control studyClin Genet201077549249819968667
   PubMed Web of Science ®Google Scholar
• WangRYCambray-ForkerEJOhanianKTreatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and IIMol Genet Metab200998440641119748810
   PubMed Web of Science ®Google Scholar
• GabrielliOClarkeLABruniSCoppaGVEnzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-upPediatrics20101251e183e18720026495
   PubMed Web of Science ®Google Scholar
• Tylki-SzymanskaAJureckaAZuberZRozdzynskaAMaruchaJCzartoryskaBEnzyme replacement therapy for mucopolysaccha-ridosis II from 3 months of age: a 3-year follow-upActa Paediatr20121011e42e4721672014
   PubMed Web of Science ®Google Scholar
• TomatsuSMontanoAMGutierrezMCharacterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfataseMol Genet Metab2007911697817336563
   PubMed Web of Science ®Google Scholar
• RodriguezAEspejoAJHernandezAEnzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21J Ind Microbiol Biotechnol201037111193120120582614
   PubMed Web of Science ®Google Scholar
• TomatsuSMontanoAMOhashiAEnzyme replacement therapy in a murine model of Morquio A syndromeHum Mol Genet200817681582418056156
   PubMed Web of Science ®Google Scholar
• DunderUKaartinenVValtonenPEnzyme replacement therapy in a mouse model of aspartylglycosaminuriaFASEB J200014236136710657992
   PubMed Web of Science ®Google Scholar
• VoglerCLevyBGrubbJHOvercoming the blood–brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccha-ridosis VIIProc Natl Acad Sci U S A200510241147771478216162667
   PubMed Web of Science ®Google Scholar
• RocesDPLullmann-RauchRPengJEfficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal studyHum Mol Genet200413181979198815269179
   PubMed Web of Science ®Google Scholar
• BioMarin Pharmaceuticals IncA Phase I/II, Multicenter, Open-Label, Dose escalation study to evaluate the safety, tolerability, and efficacy of BMN 110 in subjects with mucopolysaccharidosis type IVAClinicalTrialsgov [website on the Internet]Bethesda, MDUS National Library of Medicine2009[updated July 15, 2011]. Available from: http://www.clinicaltrials.gov/ct2/show/NCT00884949NLM identifer: NCT00884949. Accessed January 7, 2013
   Google Scholar
• BioMarin Pharmaceuticals IncA double-blind study to evaluate the efficacy and safety of BMN 110 in patients with mucopolysacchari-dosis IVA (Morquio A syndrome)ClinicalTrialsgov [website on the Internet]Bethesda, MDUS National Library of Medicine2011[updated August 6, 2012]. Available from: http://www.clinicaltrials.gov/ct2/show/NCT01275066NLM identifier: NCT01275066. Accessed January 7, 2013
   Google Scholar
• BioMarin Pharmaceuticals IncLong-term efficacy and safety extension study of BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A syndrome)ClinicalTrialsgov [website on the Internet]Bethesda, MDUS National Library of Medicine2011[updated September 18, 2012] Available from: http://www.clinicaltrials.gov/ct2/show/NCT01415427NLM identifier: NCT01415427. Accessed January 7, 2013
   Google Scholar
• BioMarin Pharmaceuticals IncStudy of BMN 110 in pediatric patients < 5 years of age with mucopolysaccharidosis IVA (Morquio A syndrome)ClinicalTrialsgov [website on the Internet]Bethesda, MDUS National Library of Medicine2011[updated September 18, 2012] Available from: http://www.clinicaltrials.gov/ct2/show/NCT01515956NLM identifier: NCT01515956. Accessed January 7, 2013
   Google Scholar
• BioMarin Pharmaceuticals IncA study to evaluate the long-term efficacy and safety of BMN 110 in patients with mucopolysacchari-dosis IVA (Morquio A syndrome)ClinicalTrialsgov [website on the Internet]Bethesda, MDUS National Library of Medicine2010[updated May 10, 2012] Available from: http://www.clinicaltrials.gov/ct2/show/NCT01242111NLM identifer: NCT01242111. Accessed January 7, 2013
   Google Scholar
• MartellLLauKMeiMBurnettVDeckerCFoehrEDBiomarker analysis of Morquio syndrome: identification of disease state and drug responsive markersOrphanet J Rare Dis201168422176730
   PubMed Web of Science ®Google Scholar
• FratantoniJCHallCWNeufeldEFHurler and Hunter syndromes: mutual correction of the defect in cultured fibroblastsScience196816238535705724236721
   PubMed Web of Science ®Google Scholar
• Di FerranteNNicholsBLDonnellyPVNeriGHrgovcicRBerglundRKInduced degradation of glycosaminoglycans in Hurler’s and Hunter’s syndromes by plasma infusionProc Natl Acad Sci U S A19716823033075277074
   PubMed Web of Science ®Google Scholar
• KnudsonAGJrDi FerranteNCurtisJEEffect of leukocyte transfusion in a child with type II mucopolysaccharidosisProc Natl Acad Sci U S A1971688173817414256894
   PubMed Web of Science ®Google Scholar
• HobbsJRHugh-JonesKBarrettAJReversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantationLancet1981282497097126116856
   PubMed Web of Science ®Google Scholar
• PrasadVKKurtzbergJTransplant outcomes in mucopolysaccharidosesSemin Hematol2010471596920109613
   PubMed Web of Science ®Google Scholar
• PetersCStewardCGNational Marrow Donor ProgramInternational Bone Marrow Transplant RegistryWorking Party on Inborn Errors, European Bone Marrow Transplant GroupHematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelinesBone Marrow Transplant2200331422923912621457
   PubMed Web of Science ®Google Scholar
• WynnRFWraithJEMercerJImproved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapyJ Pediatr2009154460961119324223
   PubMed Web of Science ®Google Scholar
• MuenzerJWraithJEClarkeLAInternational Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelinesPediatrics120091231192919117856
   PubMed Web of Science ®Google Scholar
• WhitleyCBBelaniKGChangPNLong-term outcome of Hurler syndrome following bone marrow transplantationAm J Med Genet19934622092188484412
   PubMed Web of Science ®Google Scholar
• SouilletGGuffonNMaireIOutcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sourcesBone Marrow Transplant200331121105111712796790
   PubMed Web of Science ®Google Scholar
• TanakaAOkuyamaTSuzukiYLong-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in JapanMol Genet Metab2012107351352023022072
   PubMed Web of Science ®Google Scholar
• PrasadVKMendizabalAParikhSHUnrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomesBlood200811272979298918587012
   PubMed Web of Science ®Google Scholar
• LeeVLiCKShingMMUmbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)Bone Marrow Transplant200026445545810982295
   PubMed Web of Science ®Google Scholar
• BelinsonSMaugerRothenberg BChopraRAronsonNFuture Research Needs for Hematopoietic Stem-Cell Transplantation in the Pediatric Population: Identifcation of Future Research Needs From Comparative Effectiveness Review No 48Rockville (MD)Agency for Healthcare Research and Quality (US)2012
   Google Scholar
• StabaSLEscolarMLPoeMCord-blood transplants from unrelated donors in patients with Hurler’s syndromeN Engl J Med2004350191960196915128896
   PubMed Web of Science ®Google Scholar
• WynnRFMercerJPageJCarrTFJonesSWraithJEUse of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patientsJ Pediatr2009154113513919187736
   PubMed Web of Science ®Google Scholar
• MentzerWCPackmanSWaraWMortonCSuccessful bone marrow transplant in a child with sickle cell anemia and Morquio’s diseaseBlood19907669a
   Google Scholar
• JohnsonFLMentzerWCKalinyakKASullivanKMAbboudMRBone marrow transplantation for sickle cell disease. The United States experienceAm J Pediatr Hematol Oncol199416122268311168
   PubMedGoogle Scholar
• MahCSFalkDJGermainSAGel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established diseaseMol Ther201018350251020104213
   PubMed Web of Science ®Google Scholar
• MahCFraitesTJJrCresawnKOZolotukhinILewisMAByrneBJA new method for recombinant adeno-associated virus vector delivery to murine diaphragmMol Ther20049345846315006614
   PubMed Web of Science ®Google Scholar
• CresawnKOFraitesTJWasserfallCImpact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type IIHum Gene Ther2005161688015703490
   PubMed Web of Science ®Google Scholar
• SunBZhangHBirdALiSYoungSPKoeberlDDImpaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expressionJ Gene Med2009111091392019621331
   PubMed Web of Science ®Google Scholar
• NaldiniLEx vivo gene transfer and correction for cell-based therapiesNat Rev Genet201112530131521445084
   PubMed Web of Science ®Google Scholar