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

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JIMD Reports, Volume 41

Part of the book series: JIMD Reports ((JIMD,volume 41))

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.

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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.

Author information

Authors and Affiliations

  1. Rare Disease Clinical Development, Sanofi Genzyme, Cambridge, MA, USA

    Gerald F. Cox

  2. Editas Medicine, Inc., Cambridge, MA, USA

    Gerald F. Cox

  3. Department of Medical Genetics, BC Children’s Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada

    Lorne A. Clarke

  4. Medical Genetics Service, Hospital de Clinicas de Porto Alegre, HCPA, Porto Alegre, Brazil

    Roberto Giugliani

  5. Department of Genetics, Federal University of Rio Grande do Sul, UFRGS and INAGEMP, Porto Alegre, Brazil

    Roberto Giugliani

  6. Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, NY, USA

    Margaret M. McGovern

Authors
  1. Gerald F. Cox
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  2. Lorne A. Clarke
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  3. Roberto Giugliani
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  4. Margaret M. McGovern
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Corresponding author

Correspondence to Gerald F. Cox .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Frits Wijburg

Appendices

Synopsis

While infantile neurovisceral ASMD is fatal in early childhood, there is a significant burden of illness throughout life for patients with chronic forms of ASMD that impacts healthcare use and quality of life.

Compliance with Ethics Guidelines

Details of Funding

Sanofi Genzyme was the sponsor and provided support for this study, including support for medical writing. The authors confirm independence from the sponsor and the content of the article was not influenced by the sponsors.

Author Contributions

All authors were involved in the planning, conducting, and reporting of the study and contributed to the development, writing, and editing of the manuscript.

Conflicts of Interest

GC was a former employee of Sanofi Genzyme and holds stock from Genzyme Corp and Sanofi Genzyme.

RG has no financial relationships that present a potential conflict of interest and has received support as a speaker for travel, for consultancy, and for board membership.

LC has no financial relationships that present a potential conflict of interest and has received support for consultancy and travel.

MMM has no financial relationships that present a potential conflict of interest and has received honoraria for consultancy.

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. All patients provided informed consent for their information to be included in the study (invited patients/families were sent a patient package by the site investigator that included study information and consent forms).

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

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Cox, G.F., Clarke, L.A., Giugliani, R., McGovern, M.M. (2018). Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 41. JIMD Reports, vol 41. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_120

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  • DOI: https://doi.org/10.1007/8904_2018_120

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58080-6

  • Online ISBN: 978-3-662-58081-3

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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