Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Melissa P. Wasserstein, Carlo Dionisi-Vici, Roberto Giugliani, Wuh Liang Hwu, Olivier Lidove, Zoltan Lukacs, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Margaret McGovern

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves. Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral disease, to less rapidly progressing chronic neurovisceral and visceral forms that are associated with significant morbidity and shorter life span due to respiratory or liver disease. Objectives: To provide a contemporary guide of clinical assessments for disease monitoring and symptom management across the spectrum of ASMD phenotypes. Methods: An international group of ASMD experts in various research and clinical fields used an evidence-informed consensus process to identify optimal assessments, interventions, and lifestyle modifications. Results: Clinical assessment strategies for major organ system involvement, including liver, spleen, cardiovascular, pulmonary, and neurological/developmental are described, as well as symptomatic treatments, interventions, and/or life style modifications that may lessen disease impact. Conclusions: There is currently no disease-specific treatment for ASMD, although enzyme replacement therapy with a recombinant human ASM (olipudase alfa) is in clinical development. Current monitoring addresses symptoms and multisystem involvement. Recommended interventions and lifestyle modifications are designed to address morbidity and disease complications and improve patient quality of life. While infantile neurovisceral ASMD is uniformly fatal in early childhood, patients with chronic visceral and chronic neurovisceral ASMD require appropriate management throughout childhood and adulthood by an interdisciplinary clinical team.

Original languageEnglish (US)
JournalMolecular Genetics and Metabolism
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Type A Niemann-Pick Disease
Sphingomyelin Phosphodiesterase
Physiologic Monitoring
Acids
Monitoring
Liver
Life Style
Spleen
Lysosomal Storage Diseases
Morbidity
Enzyme Replacement Therapy
Lung
Gene encoding
Sphingomyelins
Peripheral Nerves
Liver Diseases
Consensus
Bone
Lymph Nodes
Bone Marrow

Keywords

  • Acid sphingomyelinase deficiency
  • ASMD
  • Patient monitoring

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). / Wasserstein, Melissa P.; Dionisi-Vici, Carlo; Giugliani, Roberto; Hwu, Wuh Liang; Lidove, Olivier; Lukacs, Zoltan; Mengel, Eugen; Mistry, Pramod K.; Schuchman, Edward H.; McGovern, Margaret.

In: Molecular Genetics and Metabolism, 01.01.2018.

Research output: Contribution to journalArticle

Wasserstein, MP, Dionisi-Vici, C, Giugliani, R, Hwu, WL, Lidove, O, Lukacs, Z, Mengel, E, Mistry, PK, Schuchman, EH & McGovern, M 2018, 'Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)', Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2018.11.014
Wasserstein, Melissa P. ; Dionisi-Vici, Carlo ; Giugliani, Roberto ; Hwu, Wuh Liang ; Lidove, Olivier ; Lukacs, Zoltan ; Mengel, Eugen ; Mistry, Pramod K. ; Schuchman, Edward H. ; McGovern, Margaret. / Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). In: Molecular Genetics and Metabolism. 2018.
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abstract = "Background: Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves. Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral disease, to less rapidly progressing chronic neurovisceral and visceral forms that are associated with significant morbidity and shorter life span due to respiratory or liver disease. Objectives: To provide a contemporary guide of clinical assessments for disease monitoring and symptom management across the spectrum of ASMD phenotypes. Methods: An international group of ASMD experts in various research and clinical fields used an evidence-informed consensus process to identify optimal assessments, interventions, and lifestyle modifications. Results: Clinical assessment strategies for major organ system involvement, including liver, spleen, cardiovascular, pulmonary, and neurological/developmental are described, as well as symptomatic treatments, interventions, and/or life style modifications that may lessen disease impact. Conclusions: There is currently no disease-specific treatment for ASMD, although enzyme replacement therapy with a recombinant human ASM (olipudase alfa) is in clinical development. Current monitoring addresses symptoms and multisystem involvement. Recommended interventions and lifestyle modifications are designed to address morbidity and disease complications and improve patient quality of life. While infantile neurovisceral ASMD is uniformly fatal in early childhood, patients with chronic visceral and chronic neurovisceral ASMD require appropriate management throughout childhood and adulthood by an interdisciplinary clinical team.",
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AU - Lidove, Olivier

AU - Lukacs, Zoltan

AU - Mengel, Eugen

AU - Mistry, Pramod K.

AU - Schuchman, Edward H.

AU - McGovern, Margaret

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