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dc.contributor.authorAkyol, Mehmet Umut
dc.contributor.authorAlden, Tord D.
dc.contributor.authorAmartino, Hernan
dc.contributor.authorAshworth, Jane
dc.contributor.authorBelani, Kumar
dc.contributor.authorBerger, Kenneth I.
dc.contributor.authorBorgo, Andrea
dc.contributor.authorBraunlin, Elizabeth
dc.contributor.authorEto, Yoshikatsu
dc.contributor.authorGold, Jeffrey I.
dc.contributor.authorJester, Andrea
dc.contributor.authorJones, Simon A.
dc.contributor.authorKarsli, Cengiz
dc.contributor.authorMackenzie, William
dc.contributor.authorMarinho, Diane Ruschel
dc.contributor.authorMcFadyen, Andrew
dc.contributor.authorMcGill, Jim
dc.contributor.authorMitchell, John J.
dc.contributor.authorMuenzer, Joseph
dc.contributor.authorOkuyama, Torayuki
dc.contributor.authorOrchard, Paul J.
dc.contributor.authorStevens, Bob
dc.contributor.authorThomas, Sophie
dc.contributor.authorWalker, Robert
dc.contributor.authorWynn, Robert
dc.contributor.authorGiugliani, Roberto
dc.contributor.authorHarmatz, Paul
dc.contributor.authorHendriksz, Christian
dc.contributor.authorScarpa, Maurizio
dc.date.accessioned2021-06-03T06:25:07Z
dc.date.available2021-06-03T06:25:07Z
dc.date.issued2019
dc.identifier.issn1750-1172
dc.identifier.urihttp://dx.doi.org/10.1186/s13023-019-1074-9
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567385/
dc.identifier.urihttp://hdl.handle.net/11655/24307
dc.description.abstractIntroduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised treatment. Although treatment guidelines are available, the methodology used to develop this guidance has come under increased scrutiny. This programme was conducted to provide evidence-based, expert-agreed recommendations to optimise management of MPS IVA. Methods Twenty six international healthcare professionals across multiple disciplines, with expertise in managing MPS IVA, and three patient advocates formed the Steering Committee (SC) and contributed to the development of this guidance. Representatives from six Patient Advocacy Groups (PAGs) were interviewed to gain insights on patient perspectives. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with experience managing patients with MPS IVA and the manuscript was evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results A total of 87 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) disease-modifying interventions (enzyme replacement therapy [ERT] and haematopoietic stem cell transplantation [HSCT]); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions (including spinal, limb, ophthalmic, cardio-thoracic and ear-nose-throat [ENT] surgeries). Consensus was reached on all statements after two rounds of voting. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance). Conclusion This manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS IVA and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps. Electronic supplementary material The online version of this article (10.1186/s13023-019-1074-9) contains supplementary material, which is available to authorized users.
dc.language.isoen
dc.relation.isversionof10.1186/s13023-019-1074-9
dc.rightsAttribution 4.0 United States
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleRecommendations For The Management Of Mps Iva: Systematic Evidence- And Consensus-Based Guidance
dc.title.alternativeRecommendations for the management of MPS IVA
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalOrphanet Journal Of Rare Diseases
dc.contributor.departmentKulak Burun Boğaz Hastalıkları
dc.identifier.volume14
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus


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Attribution 4.0 United States
Except where otherwise noted, this item's license is described as Attribution 4.0 United States