Advertisement

pp 1-11 | Cite as

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

  • Gerald F. Cox
  • Lorne A. Clarke
  • Roberto Giugliani
  • Margaret M. McGovern
Research Report
Part of the JIMD Reports book series

Abstract

Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease caused by the deficiency of the enzyme acid sphingomyelinase (ASM) resulting in accumulation of sphingomyelin in target tissues. Little is known regarding predictors of disease-related morbidity, healthcare use, and lifestyle impact in adults with chronic disease. A multinational retrospective study collected data on the burden of illness and healthcare resource use for 100 patients across the clinical spectrum of ASMD, including those with rapidly progressive infantile neurovisceral disease (n = 13) and those with the more slowly progressive chronic neurovisceral (n = 6) and chronic visceral (n = 81) disease. Growth was subnormal throughout childhood for all patients with chronic neurovisceral disease and for 50% of patients with chronic visceral disease. Developmental delay, regression, and/or learning disabilities were reported in 40% of patients with chronic neurovisceral ASMD and 21% of patients with chronic visceral ASMD. Outpatient therapy or home healthcare was required for 50% of patients with chronic neurovisceral disease and 12% of patients with chronic visceral disease. Disease-related disability for patients with chronic disease resulted in need for home schooling for 16% of patients and compromised work ability for 22% of patients. Grade school was the highest level of education for 22% of patients older than 13 years of age.

Keywords

Acid sphingomyelinase deficiency Burden of illness Disease manifestations Lysosomal storage disorder Natural history Niemann-Pick disease types A and B 

Notes

Acknowledgments

The authors thank the patients and their families for participating in this study and Dr. Joseph Clarke, University of Toronto, Canada, for contributing patient data.

Funding for this study was provided by Sanofi Genzyme. Patrice C Ferriola, PhD (KZE PharmAssociates, LLC, Chapel Hill NC) provided assistance in preparation of the manuscript and was funded by Sanofi Genzyme.

References

  1. Arends M, Hollak CE, Biegstraaten M (2015) Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis 10:77Google Scholar
  2. Cassiman D, Packman S, Bembi B et al (2016) Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): literature review and report of new cases. Mol Genet Metab 118(3):206–213Google Scholar
  3. Cortiella C, Horowitz S (2014) The state of learning disabilities: facts, trends, and emerging issues, 3rd edn. National Center for Learning Disabilities, New YorkGoogle Scholar
  4. Guffon N, Heron B, Chabrol B, Feillet F, Montauban V, Valayannopoulos V (2015) Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study. Orphanet J Rare Dis 10:43Google Scholar
  5. Hollak CE, de Sonnaville ES, Cassiman D et al (2012) Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab 107(3):526–533Google Scholar
  6. Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L (2011) Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis 34(5):1045–1052Google Scholar
  7. Kingma SD, Bodamer OA, Wijburg FA (2015) Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab 29(2):145–157Google Scholar
  8. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP (2006) Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology 66(2):228–232Google Scholar
  9. McGovern MM, Wasserstein MP, Giugliani R et al (2008) A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics 122(2):e341–e349Google Scholar
  10. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP (2013) Morbidity and mortality in type B Niemann-Pick disease. Genet Med 15(8):618–623Google Scholar
  11. McIntire DD, Leveno KJ (2008) Neonatal mortality and morbidity rates in late preterm births compared with births at term. Obstet Gynecol 111(1):35–41Google Scholar
  12. Needham M, Packman W, Quinn N et al (2015) Health-related quality of life in patients with MPS II. J Genet Couns 24(4):635–644Google Scholar
  13. Raluy-Callado M, Chen WH, Whiteman DA, Fang J, Wiklund I (2013) The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life. Orphanet J Rare Dis 8:101Google Scholar
  14. Schuchman EH, Desnick RJ (2013) Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Valle D, Beaudet A, Vogelstein B et al (eds) OMMBID-the online metabolic and molecular bases of inherited disease. McGraw-Hill, New York. http://ommbid.mhmedical.com/content.aspx?bookid=474&Sectionid=45374145. Accessed JanGoogle Scholar
  15. Schuchman EH, Wasserstein MP (2015) Types A and B Niemann-Pick disease. Best Pract Res Clin Endocrinol Metab 29(2):237–247Google Scholar
  16. Ulmer FF, Landolt MA, Vinh RH et al (2009) Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis. Pediatr Nephrol 24(7):1371–1378Google Scholar
  17. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM (2003) Growth restriction in children with type B Niemann-Pick disease. J Pediatr 142(4):424–428Google Scholar
  18. Wasserstein MP, Desnick RJ, Schuchman EH et al (2004) The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 114(6):e672–e677Google Scholar
  19. Wasserstein MP, Jones SA, Soran H et al (2015) Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab 116(1–2):88–97Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Gerald F. Cox
    • 1
    • 2
  • Lorne A. Clarke
    • 3
  • Roberto Giugliani
    • 4
    • 5
  • Margaret M. McGovern
    • 6
  1. 1.Rare Disease Clinical DevelopmentSanofi GenzymeCambridgeUSA
  2. 2.Editas Medicine, Inc.CambridgeUSA
  3. 3.Department of Medical GeneticsBC Children’s Hospital Research Institute, University of British ColumbiaVancouverCanada
  4. 4.Medical Genetics ServiceHospital de Clinicas de Porto Alegre, HCPAPorto AlegreBrazil
  5. 5.Department of GeneticsFederal University of Rio Grande do Sul, UFRGS and INAGEMPPorto AlegreBrazil
  6. 6.Department of PediatricsStony Brook University School of MedicineStony BrookUSA

Personalised recommendations