ArticleJIMD reports2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Impact of Diffusing Lung Capacity for Carbon Monoxide on Mortality Risk in Patients with ASMD: Insights from a Post Hoc Analysis.Advances in therapy · 2026Trial
- Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency.Cells · 2026Review
- Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026Review
- A suspicion index tool to aid the diagnosis and treatment of ASMD.Orphanet journal of rare diseases · 2026Article
- A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.Journal of clinical medicine · 2026Article
- From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD).The European journal of health economics : HEPAC : health economics in prevention and care · 2024Article
- Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data.Molecular genetics and metabolism reports · 2024Article
- Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study.Molecular genetics and metabolism reports · 2024Article
- Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use.Clinical drug investigation · 2023Review
- Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.Internal and emergency medicine · 2023Article
- Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.Frontiers in pediatrics · 2023Review
- Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.Orphanet journal of rare diseases · 2022Article
- Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.Orphanet journal of rare diseases · 2022Article
- Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice.Orphanet journal of rare diseases · 2022Article
- Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease.JIMD reports · 2021Article
- Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.Orphanet journal of rare diseases · 2021Article
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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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