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Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y.

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

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Department of Otolaryngology, Hacettepe University, Ankara, Turkey.
Department of Neurosurgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Child Neurology Department, Hospital Universitario Austral, Buenos Aires, Argentina.
Department of Paediatric Ophthalmology, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Department of Anesthesiology, University of Minnesota, Minneapolis, MN, USA.
Departments of Medicine and Neuroscience and Physiology, New York University School of Medicine, André Cournand Pulmonary Physiology Laboratory, Bellevue Hospital, New York, NY, USA.
Orthopaedics Clinic, Padova University Hospital, Padova, Italy.
Division of Pediatric Cardiology, University of Minnesota, Minneapolis, MN, USA.
Advanced Clinical Research Centre, Institute of Neurological Disorders, Kanagawa, Japan and Department of Paediatrics/Gene Therapy, Tokyo Jikei University School of Medicine, Tokyo, Japan.
Keck School of Medicine, Departments of Anesthesiology, Pediatrics, and Psychiatry & Behavioural Sciences, Children's Hospital Los Angeles, Department of Anesthesiology Critical Care Medicine, 4650 Sunset Boulevard, Los Angeles, CA, USA.
Hand and Upper Limb Service, Department of Plastic Surgery, Birmingham Women's and Children's Hospital, Birmingham, UK.
Willink Biochemical Genetic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Department of Anesthesiology and Pain Medicine, The Hospital for Sick Children, Toronto, Canada.
Department of Orthopedics, Nemours/Alfred I. Dupont Hospital for Children, Wilmington, DE, USA.
Department of Ophthalmology, UFRGS, and Ophthalmology Service, HCPA, Porto Alegre, Brazil.
The Isaac Foundation, Campbellford, ON, Canada.
Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
Division of Pediatric Endocrinology, Montreal Children's Hospital, Montreal, QC, Canada.
Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Clinical Laboratory Medicine, National Centre for Child Health and Development, Tokyo, Japan.
Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
MPS Society, Amersham, Buckinghamshire, UK.
Department of Paediatric Anaesthesia, Royal Manchester Children's Hospital, Manchester, UK.
Department of Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.
Department of Genetics, UFRGS, and Medical Genetics Service, HCPA, Porto Alegre, Brazil.
UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.
Center for Rare Diseases at Host Schmidt Kliniken, Wiesbaden, Germany and Department of Paediatrics, University of Padova, Padova, Italy.



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.


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.


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).


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.


Anaesthetics; ERT; Enzyme replacement therapy; Galsulfase; HSCT; Haematopoietic stem cell transplantation; MPS VI; Management guidelines; Maroteaux-Lamy syndrome; Mucopolysaccharidosis; Surgery

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