Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
Journal
Molecular Genetics and Metabolism
Journal Volume
126
Journal Issue
2
Pages
98-105
Date Issued
2019
Author(s)
Wasserstein M.
Dionisi-Vici C.
Giugliani R.
Lidove O.
Lukacs Z.
Mengel E.
Mistry P.K.
Schuchman E.H.
McGovern M.
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. ? 2018 The Authors
Subjects
Acid sphingomyelinase deficiency; ASMD; Patient monitoring
SDGs
Other Subjects
olipudase alfa; sphingomyelin; sphingomyelin phosphodiesterase; acid sphingomyelinase deficiency; adulthood; cardiovascular disease; childhood; clinical assessment; enzyme replacement; fatality; gene; gene mutation; human; lifespan; lifestyle modification; liver disease; lung disease; lysosome storage disease; morbidity; neurologic disease; palliative therapy; patient monitoring; peripheral nerve; phenotype; priority journal; quality of life; respiratory tract disease; Review; smpd1 gene; clinical trial (topic); disease management; mutation; Niemann Pick disease; physiologic monitoring; practice guideline; procedures; risk reduction; statistics and numerical data; Clinical Trials as Topic; Disease Management; Enzyme Replacement Therapy; Humans; Monitoring, Physiologic; Mutation; Niemann-Pick Disease, Type A; Phenotype; Practice Guidelines as Topic; Quality of Life; Risk Reduction Behavior
Publisher
Academic Press Inc.
Type
review