Abstract
Background: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.
Objective: The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease.
Methods: We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme®, BioMarin Pharmaceutical Inc.), treatment naïve patients (n = 269) who participated in various MPS VI studies, including galsulfase clinical trials and their extension programs, the MPS VI clinical surveillance program (CSP), and the MPS VI survey and resurvey studies, to construct growth charts for the MPS VI population. There were 229 patients included in this study, of which data from 207 patients ≤25 years of age with 513 height measurements were used for constructing reference growth curves.
Results: Height for age growth curves for the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles were constructed for patients with rapidly and slowly progressing disease defined by the pre-enzyme replacement therapy (ERT) uGAG levels of > or ≤200 μg/mg creatinine. The mean (SD) pre-ERT uGAG levels were 481.0 (218.6) and 97.8 (56.3) μg/mg creatinine for the patients ≤25 years of age with rapidly (n = 131) and slowly (n = 76) progressing MPS VI disease, respectively. The median growth curves for patients with ≤ and >200 μg/mg creatinine were above and below the median (50th percentile) growth curve for the entire MPS VI population.
Conclusion: MPS VI growth charts have been developed to assist in the clinical management of MPS VI patients.
Competing interests: None declared
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- CDC:
-
Centers for Disease Control and Prevention
- CSP:
-
Clinical surveillance program
- ERT:
-
Enzyme replacement therapy
- GAG:
-
Glycosaminoglycans
- HSCT:
-
Hematopoietic stem cell transplant
- LMS:
-
Lambda Mu Sigma
- MPS VI:
-
Mucopolysaccharidosis VI
- uGAG:
-
Urinary glycosaminoglycans
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Acknowledgements
This study was performed based on the suggestion of the MPS VI CSP publication advisory board (Drs Jim McGill, Rossella Parini, Ans van der Ploeg, Paul Harmatz, Chris Hendriksz, Christina Lampe, Vassili Valayannopoulos, and Elisa Leão-Teles). The clinical trials data was provided by the MPS VI Study Group coinvestigators (see below). This study was supported by BioMarin Pharmaceutical Inc. and, in part, with funds provided by the National Institutes of Health/National Center for Research Resources (NIH/NCRR) CTSA grant UL1RR024131 (Dr Harmatz). The Authors thank Prof Tim Cole, Center for Pediatric Epidemiology and Biostatistics, UCL Institute of Child Health, London, UK, for his expert advice; Ajay K. Malik, PhD, (BioMarin) for medical writing and graphics support; and Robert Matousek (BioMarin) for statistical analysis.
The MPS VI Study Group coinvestigators were Agata Fiumara, MD, Department of Pediatrics, University of Catania, Catania, Italy; Ana Cecília Azevedo, MD, Serviço de Genética Médica/HCPA and Department of Genetics/UFRGS, Porto Alegre, Brazil; Ana Maria Martins, MD, UNIFESP, Instituto de Oncologia Pediátrica, GRAACC/UNIFESP, Departamento de Pediatria, São Paulo, Brazil; Anne O’Meara, MD, Our Lady’s Hospital for Sick Children, Dublin, Ireland; Barbara Plecko, Univ. Klinik fur Kinder und Jugendheilkunde, Graz, Austria; Prof. Billette de Villemeur, Hôpital Trousseau, Paris, France; Bonito Victor, MD, Unidade de Doenças Metabólicas, Departamento Pediatria, Hospital de Sao João, Porto, Portugal; Chester B. Whitley, University of Minnesota Medical School, Minneapolis, MN, USA; Claudia Lee, MPH, Children’s Hospital & Research Center Oakland, Oakland, California; David Ketteridge, Department of Genetic Medicine, Women’s and Children’s Hospital Adelaide, North Adelaide, Australia; David Sillence, MD, Children’s Hospital, Westmead, Australia; D.N. Bennett-Jones, MD, Consultant General & Renal Physician, Whitehaven, UK; Eduardo Coopman, MD, Hospital del Cobre De. Salvador, Calama, Chile; Elio Gizzi, MD, Children’s Hospital & Research Center Oakland, Oakland, California; Elisa Leão-Teles ,MD, Unidade de Doenças Metabólicas, Departamento Pediatria, Hospital de Sao João, Porto, Portugal; Emerson Santana Santos, MD, Fundação Universidade de Ciências da Saúde de Alagoas Governador, Departamento de Pediatria, Maceió, Brazil; Eugênia Ribeiro Valadares, MD, PhD, Hospital das Clínicas, Faculdade de Medicina da Universidade Federal de Minas Gerais-UFMG, Avenida Professor Alfredo Balena, Belo Horizonte-Minas Gerais, Brazil; Prof Giovanni Sorge, Department of Pediatrics, University of Catania, Catania, Italy; Gregory Pastores, MD, PhD, NYU Medical Center, Rusk Institute, New York, New York; Ida Vanessa D. Schwartz, MD, Serviço de Genética Médica/HCPA and Department of Genetics/UFRGS, Porto Alegre, Brazil; Isabel Cristina Neves de Souza, MD, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Brazil; Javier Arroyo, MD, Hospital San Pedro de Alcantara, Hospital de día de Pediatría, Caceres, Spain; J. Edmond Wraith, MD, Royal Manchester Children’s Hospital, Manchester, UK; John J. Hopwood, Department of Genetic Medicine, Women’s and Children’s Hospital Adelaide, North Adelaide, Australia; John Waterson, MD, PhD, Children’s Hospital & Research Center Oakland, Oakland, California; Julie Simon, RN, Children’s Hospital & Research Center Oakland, Oakland, California; Laila Arash, Children’s Hospital, University of Mainz, Germany; Laura Keppen, MD, Department of Pediatrics, University of South Dakota School of Medicine, Sioux Falls, SD; Lewis Waber, MD, PhD, Pediatric Genetics and Metabolism, University of Texas Southwest Medical Center, Dallas, TX; Lionel Lubitz, MD, Royal Children’s Hospital, Melbourne, Australia; Lorenzo Pavone, MD, Department of Pediatrics, University of Catania, Catania, Italy; Luiz Carlos Santana da Silva, PhD, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Brazil; Maurizio Scarpa, Department of Pediatrics, University of Padova, Padova, Italy; M. Clara Sá Miranda, MD, Unidade de Biologia do Lisossoma e Peroxisoma, Instituto de Biologia Molecular e Celular, Porto, Portugal; Michael Beck, MD,Children’s Hospital, University of Mainz, Germany; Michel Kretz, MD, Hôpital Civil de Colmar, Le Parc Centre de la Mère et de l’Enfant, Colmar, France; Nathalie Guffon, MD, Hôpital Edouard Herriot Pavillon S, Maladies Metaboliques, Lyon, France; Paige Kaplan, Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Paul Harmatz, MD Children’s Hospital & Research Center Oakland, Oakland, California; Philippe Bernard, MD, Centre Hospitalier d’Arras, Arras, France; Raquel Boy, MD, Hospital Universitário Pedro Ernesto, Rio de Janeiro, Brazil; Ray Pais, MD, Pediatric Hematology/Oncology, East Tennessee Children’s Hospital, Knoxville, TN; Rita Barone, MD, Department of Pediatrics, University of Catania, Catania, Italy; Robert Steiner, Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA; Roberto Giugliani, MD, PhD, Serviço de Genética Médica/HCPA and Department of Genetics/UFRGS, Porto Alegre, Brazil; Prof Rudolf Korinthenberg, Universitätsklinikum Freiburg, Zentrum für Kinderheilkunde und Jugendmedizin, Klinik II Neuropädiatrie und Muskelerkrankungen, Freiburg, Germany; Shuan-Pei Lin, MD, MacKay Memorial Hospital, Department of Genetics, Taipei, Taiwan; Silvio Pozzi, MD, Ospedale Vito Fazzi, UO Pediatria, Lecce, Italy; Simon Jones, MD, Royal Manchester Children’s Hospital, Manchester, UK; Stephanie Oates, RN Department of Genetic Medicine, Women’s and Children’s Hospital Adelaide, North Adelaide, Australia; Susan Conrad, MD, Children’s Hospital & Research Center Oakland, Oakland, California; Uwe Preiss, MD, Universitaetsklinik und Poliklinik fuer Kinder, Halle, Germany; William Frischman, MD, The Townsville Hospital, Townsville, Australia; Yasmina Amraoui, MD, Children’s Hosp, University of Mainz, Germany.
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Synopsis
Growth charts for rapidly and slowly progressing MPS VI patients.
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Conflict of Interest
Christian J. Hendriksz, Rossella Parini, and Paul Harmatz have worked as consultants and study investigators for BioMarin Pharmaceutical Inc., received research grants, participated in BioMarin advisory board meetings, and received speaker honoraria and travel support from BioMarin Pharmaceutical Inc. Adrian Quartel, Sue Graham, and Ping Lin are employees and stockholders of BioMarin Pharmaceutical Inc.
Patient Consent Statement
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Each participant or his/her legally authorized representative provided written informed consent before entering the study in compliance with the applicable local regulations.
Contributions of Individual Authors
Adrian Quartel contributed to the conception and research design, performed data analysis, and contributed to the writing of the manuscript.
Christian J. Hendriksz contributed to the conception and research design, acquisition of data, and revising manuscript critically for important intellectual content.
Rossella Parini contributed to the conception and research design, acquisition of data, and revising manuscript critically for important intellectual content.
Sue Graham contributed to the conception and research design and revised manuscript critically for important intellectual content.
Ping Lin contributed to the research design, developed statistical methodologies, performed statistical analyses and interpretations, and revised manuscript critically for important intellectual content.
Paul Harmatz contributed to the conception and research design and acquisition of data and contributed to the writing of the manuscript.
Guarantor: Adrian Quartel
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Quartel, A., Hendriksz, C.J., Parini, R., Graham, S., Lin, P., Harmatz, P. (2014). Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome). In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 18. JIMD Reports, vol 18. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_333
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DOI: https://doi.org/10.1007/8904_2014_333
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