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

TY - JOUR

T1 - Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

AU - Wasserstein, Melissa

AU - Dionisi-Vici, Carlo

AU - Giugliani, Roberto

AU - Hwu, Wuh-Liang

AU - Lidove, Olivier

AU - Lukacs, Zoltan

AU - Mengel, Eugen

AU - Mistry, Pramod K

AU - Schuchman, Edward H

AU - McGovern, Margaret

N1 - Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

PY - 2019/2

Y1 - 2019/2

N2 - 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.

AB - 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.

KW - Clinical Trials as Topic

KW - Disease Management

KW - Enzyme Replacement Therapy

KW - Humans

KW - Monitoring, Physiologic/methods

KW - Mutation

KW - Niemann-Pick Disease, Type A/diagnosis

KW - Phenotype

KW - Practice Guidelines as Topic

KW - Quality of Life

KW - Risk Reduction Behavior

U2 - 10.1016/j.ymgme.2018.11.014

DO - 10.1016/j.ymgme.2018.11.014

M3 - SCORING: Review article

C2 - 30514648

VL - 126

SP - 98

EP - 105

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 2

ER -