Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Abstract Introduction 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...
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2019-06-01
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Series: | Orphanet Journal of Rare Diseases |
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Online Access: | http://link.springer.com/article/10.1186/s13023-019-1074-9 |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mehmet Umut Akyol Tord D. Alden Hernan Amartino Jane Ashworth Kumar Belani Kenneth I. Berger Andrea Borgo Elizabeth Braunlin Yoshikatsu Eto Jeffrey I. Gold Andrea Jester Simon A. Jones Cengiz Karsli William Mackenzie Diane Ruschel Marinho Andrew McFadyen Jim McGill John J. Mitchell Joseph Muenzer Torayuki Okuyama Paul J. Orchard Bob Stevens Sophie Thomas Robert Walker Robert Wynn Roberto Giugliani Paul Harmatz Christian Hendriksz Maurizio Scarpa MPS Consensus Programme Steering Committee MPS Consensus Programme Co-Chairs |
spellingShingle |
Mehmet Umut Akyol Tord D. Alden Hernan Amartino Jane Ashworth Kumar Belani Kenneth I. Berger Andrea Borgo Elizabeth Braunlin Yoshikatsu Eto Jeffrey I. Gold Andrea Jester Simon A. Jones Cengiz Karsli William Mackenzie Diane Ruschel Marinho Andrew McFadyen Jim McGill John J. Mitchell Joseph Muenzer Torayuki Okuyama Paul J. Orchard Bob Stevens Sophie Thomas Robert Walker Robert Wynn Roberto Giugliani Paul Harmatz Christian Hendriksz Maurizio Scarpa MPS Consensus Programme Steering Committee MPS Consensus Programme Co-Chairs Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance Orphanet Journal of Rare Diseases Morquio a syndrome Mucopolysaccharidosis MPS IVA Management guidelines Elosulfase alfa VIMIZIM |
author_facet |
Mehmet Umut Akyol Tord D. Alden Hernan Amartino Jane Ashworth Kumar Belani Kenneth I. Berger Andrea Borgo Elizabeth Braunlin Yoshikatsu Eto Jeffrey I. Gold Andrea Jester Simon A. Jones Cengiz Karsli William Mackenzie Diane Ruschel Marinho Andrew McFadyen Jim McGill John J. Mitchell Joseph Muenzer Torayuki Okuyama Paul J. Orchard Bob Stevens Sophie Thomas Robert Walker Robert Wynn Roberto Giugliani Paul Harmatz Christian Hendriksz Maurizio Scarpa MPS Consensus Programme Steering Committee MPS Consensus Programme Co-Chairs |
author_sort |
Mehmet Umut Akyol |
title |
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance |
title_short |
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance |
title_full |
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance |
title_fullStr |
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance |
title_full_unstemmed |
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance |
title_sort |
recommendations for the management of mps iva: systematic evidence- and consensus-based guidance |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2019-06-01 |
description |
Abstract Introduction 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. |
topic |
Morquio a syndrome Mucopolysaccharidosis MPS IVA Management guidelines Elosulfase alfa VIMIZIM |
url |
http://link.springer.com/article/10.1186/s13023-019-1074-9 |
work_keys_str_mv |
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doaj-07788539a8b74b2fa1444bee0867e5602020-11-25T03:54:26ZengBMCOrphanet Journal of Rare Diseases1750-11722019-06-0114112510.1186/s13023-019-1074-9Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol0Tord D. Alden1Hernan Amartino2Jane Ashworth3Kumar Belani4Kenneth I. Berger5Andrea Borgo6Elizabeth Braunlin7Yoshikatsu Eto8Jeffrey I. Gold9Andrea Jester10Simon A. Jones11Cengiz Karsli12William Mackenzie13Diane Ruschel Marinho14Andrew McFadyen15Jim McGill16John J. Mitchell17Joseph Muenzer18Torayuki Okuyama19Paul J. Orchard20Bob Stevens21Sophie Thomas22Robert Walker23Robert Wynn24Roberto Giugliani25Paul Harmatz26Christian Hendriksz27Maurizio Scarpa28MPS Consensus Programme Steering CommitteeMPS Consensus Programme Co-ChairsDepartment of Otolaryngology, Hacettepe UniversityDepartment of Neurosurgery, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of MedicineChild Neurology Department, Hospital Universitario AustralDepartment of Paediatric Ophthalmology, Manchester Royal Eye Hospital, Manchester University NHS Foundation TrustDepartment of Anesthesiology, University of MinnesotaDepartments of Medicine and Neuroscience and Physiology, New York University School of Medicine, André Cournand Pulmonary Physiology Laboratory, Bellevue HospitalOrthopaedics Clinic, Padova University HospitalDivision of Pediatric Cardiology, University of MinnesotaAdvanced Clinical Research Centre, Institute of Neurological Disorders, Kanagawa, Japan and Department of Paediatrics/Gene Therapy, Tokyo Jikei University School of MedicineKeck School of Medicine, Departments of Anesthesiology, Pediatrics, and Psychiatry & Behavioural Sciences, Children’s Hospital Los Angeles, Department of Anesthesiology Critical Care MedicineHand and Upper Limb Service, Department of Plastic Surgery, Birmingham Women’s and Children’s HospitalWillink Biochemical Genetic Unit, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation TrustDepartment of Anesthesiology and Pain Medicine, The Hospital for Sick ChildrenDepartment of Orthopedics, Nemours/Alfred I, Dupont Hospital for ChildrenDepartment of Ophthalmology, UFRGS, and Ophthalmology Service, HCPAThe Isaac FoundationDepartment of Metabolic Medicine, Queensland Children’s HospitalDivision of Pediatric Endocrinology, Montreal Children’s HospitalDepartment of Pediatrics, School of Medicine, University of North Carolina at Chapel HillDepartment of Clinical Laboratory Medicine, National Centre for Child Health and DevelopmentDivision of Blood and Marrow Transplantation, Department of Pediatrics, University of MinnesotaMPS SocietyMPS SocietyDepartment of Paediatric Anaesthesia, Royal Manchester Children’s HospitalDepartment of Paediatric Haematology, Royal Manchester Children’s HospitalDepartment of Genetics, UFRGS, and Medical Genetics Service, HCPAUCSF Benioff Children’s Hospital OaklandSteve Biko Academic Hospital, University of PretoriaCenter for Rare Diseases at Host Schmidt Kliniken, Wiesbaden, Germany and Department of Paediatrics University of PadovaAbstract Introduction 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.http://link.springer.com/article/10.1186/s13023-019-1074-9Morquio a syndromeMucopolysaccharidosisMPS IVAManagement guidelinesElosulfase alfaVIMIZIM |