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

  • Gerald F. CoxEmail author
  • Lorne A. Clarke
  • Roberto Giugliani
  • Margaret M. McGovern
Research Report
Part of the JIMD Reports book series (JIMD, volume 41)


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.


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



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.


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Copyright information

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

Authors and Affiliations

  • Gerald F. Cox
    • 1
    • 2
    Email author
  • 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

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