Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance

Detalhes bibliográficos
Autor(a) principal: Akyol, Mehmet Umut
Data de Publicação: 2019
Outros Autores: Giugliani, Roberto, Marinho, Diane Ruschel, Scarpa, Maurizio
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/201033
Resumo: Introduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. Methods: 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results: A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. 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 VI 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.
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spelling Akyol, Mehmet UmutGiugliani, RobertoMarinho, Diane RuschelScarpa, Maurizio2019-10-25T03:47:37Z20191750-1172http://hdl.handle.net/10183/201033001104077Introduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. Methods: 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results: A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. 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 VI 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.application/pdfengOrphanet journal of rare diseases. [London] : BioMed Central. Vol. 14 (2019), 118, 21 p.Mucopolissacaridose VIGuia de prática clínicaAvaliação de sintomasMonitorização fisiológicaTranstornos do sono-vigíliaTerapia de reposição de enzimasTransplante de células-tronco hematopoéticasProcedimentos cirúrgicos operatóriosAnestésicosMaroteaux-Lamy syndromeMucopolysaccharidosisMPS VIManagement guidelinesGalsulfaseEnzyme replacement therapyERTHaematopoietic stem cell transplantationHSCTSurgeryAnaestheticsRecommendations for the management of MPS VI : systematic evidence- and consensus-based guidanceEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001104077.pdf.txt001104077.pdf.txtExtracted Texttext/plain120871http://www.lume.ufrgs.br/bitstream/10183/201033/2/001104077.pdf.txt45c177023b621d272e0b6125c2d5ef19MD52ORIGINAL001104077.pdfTexto completo (inglês)application/pdf813730http://www.lume.ufrgs.br/bitstream/10183/201033/1/001104077.pdf6a6a1ab1821d17033e80c42f4bf703cbMD5110183/2010332019-10-26 03:51:16.491723oai:www.lume.ufrgs.br:10183/201033Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2019-10-26T06:51:16Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
title Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
spellingShingle Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
Akyol, Mehmet Umut
Mucopolissacaridose VI
Guia de prática clínica
Avaliação de sintomas
Monitorização fisiológica
Transtornos do sono-vigília
Terapia de reposição de enzimas
Transplante de células-tronco hematopoéticas
Procedimentos cirúrgicos operatórios
Anestésicos
Maroteaux-Lamy syndrome
Mucopolysaccharidosis
MPS VI
Management guidelines
Galsulfase
Enzyme replacement therapy
ERT
Haematopoietic stem cell transplantation
HSCT
Surgery
Anaesthetics
title_short Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
title_full Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
title_fullStr Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
title_full_unstemmed Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
title_sort Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
author Akyol, Mehmet Umut
author_facet Akyol, Mehmet Umut
Giugliani, Roberto
Marinho, Diane Ruschel
Scarpa, Maurizio
author_role author
author2 Giugliani, Roberto
Marinho, Diane Ruschel
Scarpa, Maurizio
author2_role author
author
author
dc.contributor.author.fl_str_mv Akyol, Mehmet Umut
Giugliani, Roberto
Marinho, Diane Ruschel
Scarpa, Maurizio
dc.subject.por.fl_str_mv Mucopolissacaridose VI
Guia de prática clínica
Avaliação de sintomas
Monitorização fisiológica
Transtornos do sono-vigília
Terapia de reposição de enzimas
Transplante de células-tronco hematopoéticas
Procedimentos cirúrgicos operatórios
Anestésicos
topic Mucopolissacaridose VI
Guia de prática clínica
Avaliação de sintomas
Monitorização fisiológica
Transtornos do sono-vigília
Terapia de reposição de enzimas
Transplante de células-tronco hematopoéticas
Procedimentos cirúrgicos operatórios
Anestésicos
Maroteaux-Lamy syndrome
Mucopolysaccharidosis
MPS VI
Management guidelines
Galsulfase
Enzyme replacement therapy
ERT
Haematopoietic stem cell transplantation
HSCT
Surgery
Anaesthetics
dc.subject.eng.fl_str_mv Maroteaux-Lamy syndrome
Mucopolysaccharidosis
MPS VI
Management guidelines
Galsulfase
Enzyme replacement therapy
ERT
Haematopoietic stem cell transplantation
HSCT
Surgery
Anaesthetics
description Introduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. Methods: 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results: A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. 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 VI 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.
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dc.relation.ispartof.pt_BR.fl_str_mv Orphanet journal of rare diseases. [London] : BioMed Central. Vol. 14 (2019), 118, 21 p.
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