Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome)

References

• Matalon R, Arbogast B, Justice P, et al. Morquio’s syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem Biophys Res Commun. 1974;61(2):759–765.
   PubMed Web of Science ®Google Scholar
• Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014;37(6):979–990.
   PubMed Web of Science ®Google Scholar
• Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36(2):309–322.
   PubMed Web of Science ®Google Scholar
• Montano AM, Tomatsu S, Brusius A, et al. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10):1286–1295.
   PubMed Web of Science ®Google Scholar
• Masuno M, Tomatsu S, Nakashima Y, et al. Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. Genomics. 1993;16(3):777–778.
   PubMed Web of Science ®Google Scholar
• GALNS mutation database. [cited 2016 July 12]. Available from: http://galns.mutdb.org/
   Google Scholar
• Leadley RM, Lang S, Misso K, et al. A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis. 2014;9:173.
   PubMed Web of Science ®Google Scholar
• Lavery C, Crofts A First treatment for Morquio disease (MPS IVA) receives marketing approval for European medicines agency. [cited 2016 July 12]. Available from: http://www.mpssociety.org.uk/media/filer_public/9d/c6/9dc67f5b-c146-4c06-9c93-d5f7901560d3/fabry-disease-in-family.pdf
   Google Scholar
• Morquio L. Sur une forme de dystrophie osseuse familiale [Article in French]. Arch Med Des Infants. 1929;32:129–135.
   Google Scholar
• Chondro-osteo-dystrophy BJ. roentgenographic and clinical features of a child with dislocation of vertebrae. Am J Surg. 1929;404:4–9.
   Google Scholar
• Kleijer WJ, Geilen GC, Garritsen V, et al. First-trimester diagnosis of Morquio disease type A. Prenat Diagn. 2000;20(3):183–185.
   PubMed Web of Science ®Google Scholar
• Zhao H, van Diggelen OP, Thoomes R, et al. Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay. Prenat Diagn. 1990;10(2):85–91.
   PubMed Web of Science ®Google Scholar
• Davison JE, Kearney S, Horton J, et al. Intellectual and neurological functioning in Morquio syndrome (MPS IVa). J Inherit Metab Dis. 2013;36(2):323–328.
   PubMed Web of Science ®Google Scholar
• Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A(1):11–25.
   PubMed Web of Science ®Google Scholar
• Morquiosity. [cited 2016 July 12]. Available from: http://www.morquiosity.com/
   Google Scholar
• Hendriksz CJ, Harmatz P, Beck M, et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013;110(1–2):54–64.
   PubMed Web of Science ®Google Scholar
• Lavery C, Hendriksz C. Mortality in patients with morquio syndrome a. JIMD Rep. 2015;15:59–66.
   PubMedGoogle Scholar
• Wood TC, Harvey K, Beck M, et al. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36(2):293–307.
   PubMed Web of Science ®Google Scholar
• Tomatsu S, Mackenzie WG, Theroux MC, et al. Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Res Rep Endocr Disord. 2012;2012(2):65–77.
   PubMedGoogle Scholar
• Tomatsu S, Sawamoto K, Almeciga-Diaz CJ, et al. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. Drug Des Devel Ther. 2015;9:1937–1953.
   PubMed Web of Science ®Google Scholar
• Solanki GA, Lo WB, Hendriksz CJ. MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome). J Inherit Metab Dis. 2013;36(2):329–337.
   PubMed Web of Science ®Google Scholar
• Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11–18.
   PubMed Web of Science ®Google Scholar
• Solanki GA, Sun PP, Martin KW, et al. Cervical cord compression in mucopolysaccharidosis VI (MPS VI): findings from the MPS VI Clinical Surveillance Program (CSP). Mol Genet Metab. 2016;118(4):310–318.
   PubMed Web of Science ®Google Scholar
• National Organization for Rare Disorders. Morquino syndrome. [cited 2016 July 12]. Avaialble from: http://rarediseases.org/rare-diseases/morquio-syndrome/
   Google Scholar
• Algahim MF, Almassi GH. Current and emerging management options for patients with Morquio A syndrome. Ther Clin Risk Manag. 2013;9:45–53.
   PubMed Web of Science ®Google Scholar
• Yabe H, Tanaka A, Chinen Y, et al. Hematopoietic stem cell transplantation for Morquio A syndrome. Mol Genet Metab. 2016;117(2):84–94.
   PubMed Web of Science ®Google Scholar
• Hematopoietic stem-cell transplantation in the pediatric population. Comparative effectiveness review no. 48. Rockville (MD): Agency for Healthcare Research and Quality; 2012 Feb.
   Google Scholar
• Yasuda E, Fushimi K, Suzuki Y, et al. Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab. 2013;109(3):301–311.
   PubMed Web of Science ®Google Scholar
• Dvorak-Ewell M, Wendt D, Hague C, et al. Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. PLoS One. 2010;5(8):e12194.
   PubMed Web of Science ®Google Scholar
• Qi Y, Musson DG, Schweighardt B, et al. Pharmacokinetic and pharmacodynamic evaluation of elosulfase alfa, an enzyme replacement therapy in patients with Morquio A syndrome. Clin Pharmacokinet. 2014;53(12):1137–1147.
   PubMed Web of Science ®Google Scholar
• Hendriksz C, Vellodi A, Jones S, et al. Long term outcomes of a phase 1/2, multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and efficacy of BMN 110 in patients with Mucopolysaccharidosis IVA (Morquio A syndrome) [abstract]. Mol Genet Metab. 2012;105(2):S35.
   Web of Science ®Google Scholar
• Harmatz P, Mengel KE, Giugliani R, et al. The Morquio A clinical assessment program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54–61.
   PubMed Web of Science ®Google Scholar
• Harmatz PR, Mengel KE, Giugliani R, et al. Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. Mol Genet Metab. 2015;114(2):186–194.
   PubMed Web of Science ®Google Scholar
• Schweighardt B, Tompkins T, Lau K, et al. Immunogenicity of elosulfase alfa, an enzyme replacement therapy in patients with Morquio A syndrome: results from MOR-004, a phase III trial. Clin Ther. 2015;37(5):1012–1021.
   PubMed Web of Science ®Google Scholar
• Hendriksz CJ, Parini R, Al-Sayed MD, et al. Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome. Mol Genet Metab. 2016;119(1–2):131–143.
   PubMed Web of Science ®Google Scholar
• Harmatz PR, Mengel E, Geberhiwot T, et al. Impact of elosulfase alfa in patients with Morquio A syndrome who have limited ambulation: an open-label, phase 2 study. Am J Med Genet A. 2016 Oct 24. doi:10.1002/ajmg.a.38014. [Epub ahead of print].
   PubMedGoogle Scholar
• Jones SA, Bialer M, Parini R, et al. Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y. Pediatr Res. 2015;78(6):717–722.
   PubMed Web of Science ®Google Scholar
• Burton BK, Berger KI, Lewis GD, et al. Safety and physiological effects of two different doses of elosulfase alfa in patients with Morquio A syndrome: a randomized, double-blind, pilot study. Am J Med Genet A. 2015;167A(10):2272–2281.
   PubMed Web of Science ®Google Scholar
• Hendriksz CJ, Giugliani R, Harmatz P, et al. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114(2):178–185.
   PubMed Web of Science ®Google Scholar
• Henricson E, Abresch R, Han JJ, et al. The 6-minute walk test and person-reported outcomes in boys with Duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year. PLoS Curr. 2013;5.
   PubMedGoogle Scholar
• Hendriksz CJ, Berger KI, Parini R, et al. Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome. J Inherit Metab Dis. 2016;39(6):839–847.
   PubMed Web of Science ®Google Scholar
• Martell L, Lau K, Mei M, et al. Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers. Orphanet J Rare Dis. 2011;6:84.
   PubMed Web of Science ®Google Scholar
• Salazar DA, Rodriguez-Lopez A, Herreno A, et al. Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network. Mol Genet Metab. 2016;117(2):129–139.
   PubMed Web of Science ®Google Scholar
• Strimbu K, Tavel JA. What are biomarkers? Curr Opin HIV AIDS. 2010;5(6):463–466.
   PubMed Web of Science ®Google Scholar
• National Institute for Health and Care Excellence. Elosulfase alfa for treating mucopolysaccharidosis type IVa. London (UK); 2015 Dec 16. Available from: https://www.nice.org.uk/guidance/hst2/resources/elosulfase-alfa-for-treating-mucopolysaccharidosis-type-iva-1394897528005
   Google Scholar
• Dempsey W, Liao P, Klasnja P, et al. Randomised trials for the Fitbit generation. Signif (Oxf). 2015;12(6):20–23.
   PubMedGoogle Scholar
• Dhillon SS, Sima CA, Kirkham AR, et al. Physical activity measurement accuracy in individuals with chronic lung disease: a systematic review with meta-analysis of method comparison studies. Arch Phys Med Rehabil. 2015;96(11):2079–2088.
   PubMed Web of Science ®Google Scholar
• Diaz KM, Krupka DJ, Chang MJ, et al. Fitbit®: an accurate and reliable device for wireless physical activity tracking. Int J Cardiol. 2015;185:138–140.
   PubMed Web of Science ®Google Scholar
• Feldhege F, Mau-Moeller A, Lindner T, et al. Accuracy of a custom physical activity and knee angle measurement sensor system for patients with neuromuscular disorders and gait abnormalities. Sensors. 2015;15(5):10734–10752.
   PubMed Web of Science ®Google Scholar
• Alharbi M, Bauman A, Neubeck L, et al. Validation of Fitbit-Flex as a measure of free-living physical activity in a community-based phase III cardiac rehabilitation population. Eur J Prev Cardiol. 2016;23(14):1476–1485.
   PubMed Web of Science ®Google Scholar
• Hibbing PR, Kim Y, Saint-Maurice PF, et al. Impact of activity outcome and measurement instrument on estimates of youth compliance with physical activity guidelines: a cross-sectional study. BMC Public Health. 2016;16:223.
   PubMed Web of Science ®Google Scholar
• Zhang JH, Macfarlane DJ, Sobko T. Feasibility of a chest-worn accelerometer for physical activity measurement. J Sci Med Sport. 2016 Mar 17. [ Epub ahead of print].
   Google Scholar
• Toietta G, Severini GM, Traversari C, et al. Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. Hum Gene Ther. 2001;12(16):2007–2016.
   PubMed Web of Science ®Google Scholar
• Almeciga-Diaz CJ, Montano AM, Tomatsu S, et al. Adeno-associated virus gene transfer in Morquio A disease-effect of promoters and sulfatase-modifying factor 1. FEBS J. 2010;277(17):3608–3619.
   PubMed Web of Science ®Google Scholar