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

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 GiuglianiEmail author View ORCID ID profile,
Paul Harmatz,
Christian Hendriksz,
Maurizio Scarpa,
MPS Consensus Programme Steering Committee and
MPS Consensus Programme Co-Chairs

Orphanet Journal of Rare Diseases201914:118

https://doi.org/10.1186/s13023-019-1080-y

Received: 2 January 2019
Accepted: 25 April 2019
Published: 29 May 2019

Abstract

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.