Recommendations for the management of MPS IVA: 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 Giugliani; Paul Harmatz; Christian Hendriksz; Maurizio Scarpa

doi:10.1186/s13023-019-1074-9

Recommendations for the management of MPS IVA: 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 OkuyamaPaul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz^*, Maurizio Scarpa

^*Corresponding author for this work

Neurological Surgery

Research output: Contribution to journal › Article › peer-review

60 Scopus citations

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- A nd 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- A nd 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.

Original language	English (US)
Article number	137
Journal	Orphanet journal of rare diseases
Volume	14
Issue number	1
DOIs	https://doi.org/10.1186/s13023-019-1074-9
State	Published - Jun 13 2019

Funding

The programme was funded by BioMarin. BioMarin were not involved in any stages of the process and did not influence the design or content of the programme. BioMarin were absent from all SC meetings, were blinded to the guidance statements and were not involved in the publication process. The programme was managed by an independent secretariat (Lucid Partners Ltd), and the scope of the programme and content, including the development of guidance statements, was led by the SC with editorial support provided by the secretariat. The SC was identified through a systematic expert mapping process, conducted independently of the funder. The authors would like to remember and dedicate this paper to their colleague and fellow SC member, Christine Lavery, MBE, Chief Executive of the Society for Mucopolysaccharide Diseases (MPS Society) and fearless advocate for those with MPS, who sadly passed away before completion of this programme. The authors would like to thank Dr. Francyne Kubaski, BS, MSc, PhD, of HCPA and UFRGS, Porto Alegre, Brazil and Dr. Gregory Lamb and Dr. Kealeboga Rammego, of Steve Biko Academic Unit, University of Pretoria, South Africa for their role as Bibliographic Fellows and assistance with literature searches and analysis; Michele Hilton Boon, Angela Perez Gomez and Karen Spithoff for reviewing the manuscript against the AGREE II Instrument; The PAG groups: Casa Hunter, German MPS Society, National MPS Society, The Isaac Foundation, Turkish MPS Society and UK MPS Society for their consultations which informed the guidance development. Programme support was provided by Rebecca Bellerby PhD, Hannah Tivey PhD and James Hadfield, BA (Oxon) of Lucid Partners Ltd., Burleighfield House, Buckinghamshire, United Kingdom. Medical writing and editorial support to the authors in the development of this manuscript was provided by Lucid Partners Ltd., Burleighfield House, Buckinghamshire, United Kingdom; financial support for these services was provided by BioMarin. MPS Consensus Programme Steering Committee: 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. MPS Consensus Programme Co-Chairs: Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa.

Keywords

Anaesthetics
ERT
Elosulfase alfa
Enzyme replacement therapy
HSCT
Haematopoietic stem cell transplantation
MPS IVA
Management guidelines
Morquio a syndrome
Mucopolysaccharidosis
Surgery
VIMIZIM

ASJC Scopus subject areas

Genetics(clinical)
Pharmacology (medical)

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10.1186/s13023-019-1074-9

Cite this

Akyol, M. U., Alden, T. D., Amartino, H., Ashworth, J., Belani, K., Berger, K. I., Borgo, A., Braunlin, E., Eto, Y., Gold, J. I., Jester, A., Jones, S. A., Karsli, C., Mackenzie, W., Marinho, D. R., McFadyen, A., McGill, J., Mitchell, J. J., Muenzer, J., ... Scarpa, M. (2019). Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet journal of rare diseases, 14(1), Article 137. https://doi.org/10.1186/s13023-019-1074-9

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title = "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 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- A nd 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- A nd 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.",

keywords = "Anaesthetics, ERT, Elosulfase alfa, Enzyme replacement therapy, HSCT, Haematopoietic stem cell transplantation, MPS IVA, Management guidelines, Morquio a syndrome, Mucopolysaccharidosis, Surgery, VIMIZIM",

author = "Akyol, {Mehmet Umut} and Alden, {Tord D.} and Hernan Amartino and Jane Ashworth and Kumar Belani and Berger, {Kenneth I.} and Andrea Borgo and Elizabeth Braunlin and Yoshikatsu Eto and Gold, {Jeffrey I.} and Andrea Jester and Jones, {Simon A.} and Cengiz Karsli and William Mackenzie and Marinho, {Diane Ruschel} and Andrew McFadyen and Jim McGill and Mitchell, {John J.} and Joseph Muenzer and Torayuki Okuyama and Orchard, {Paul J.} and Bob Stevens and Sophie Thomas and Robert Walker and Robert Wynn and Roberto Giugliani and Paul Harmatz and Christian Hendriksz and Maurizio Scarpa",

note = "Publisher Copyright: {\textcopyright} 2019 The Author(s).",

year = "2019",

month = jun,

day = "13",

doi = "10.1186/s13023-019-1074-9",

language = "English (US)",

volume = "14",

journal = "Orphanet journal of rare diseases",

issn = "1750-1172",

publisher = "BioMed Central",

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Akyol, MU, Alden, TD, Amartino, H, Ashworth, J, Belani, K, Berger, KI, Borgo, A, Braunlin, E, Eto, Y, Gold, JI, Jester, A, Jones, SA, Karsli, C, Mackenzie, W, Marinho, DR, McFadyen, A, McGill, J, Mitchell, JJ, Muenzer, J, Okuyama, T, Orchard, PJ, Stevens, B, Thomas, S, Walker, R, Wynn, R, Giugliani, R, Harmatz, P, Hendriksz, C & Scarpa, M 2019, 'Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance', Orphanet journal of rare diseases, vol. 14, no. 1, 137. https://doi.org/10.1186/s13023-019-1074-9

TY - JOUR

T1 - Recommendations for the management of MPS IVA

T2 - systematic evidence- and consensus-based guidance

AU - Akyol, Mehmet Umut

AU - Alden, Tord D.

AU - Amartino, Hernan

AU - Ashworth, Jane

AU - Belani, Kumar

AU - Berger, Kenneth I.

AU - Borgo, Andrea

AU - Braunlin, Elizabeth

AU - Eto, Yoshikatsu

AU - Gold, Jeffrey I.

AU - Jester, Andrea

AU - Jones, Simon A.

AU - Karsli, Cengiz

AU - Mackenzie, William

AU - Marinho, Diane Ruschel

AU - McFadyen, Andrew

AU - McGill, Jim

AU - Mitchell, John J.

AU - Muenzer, Joseph

AU - Okuyama, Torayuki

AU - Orchard, Paul J.

AU - Stevens, Bob

AU - Thomas, Sophie

AU - Walker, Robert

AU - Wynn, Robert

AU - Giugliani, Roberto

AU - Harmatz, Paul

AU - Hendriksz, Christian

AU - Scarpa, Maurizio

PY - 2019/6/13

Y1 - 2019/6/13

N2 - 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- A nd 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- A nd 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.

AB - 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- A nd 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- A nd 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.

KW - Anaesthetics

KW - ERT

KW - Elosulfase alfa

KW - Enzyme replacement therapy

KW - HSCT

KW - Haematopoietic stem cell transplantation

KW - MPS IVA

KW - Management guidelines

KW - Morquio a syndrome

KW - Mucopolysaccharidosis

KW - Surgery

KW - VIMIZIM

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DO - 10.1186/s13023-019-1074-9

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SN - 1750-1172

VL - 14

JO - Orphanet journal of rare diseases

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ER -

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

Abstract

Funding

Keywords

ASJC Scopus subject areas

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