ArticleOrphanet journal of rare diseases2021
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 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
- Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.Journal of inherited metabolic disease · 2026Trial
- 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
- Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.Journal of inherited metabolic disease · 2025Trial
- A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient.Molecular genetics and metabolism reports · 2026Article
- Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center.Molecular genetics and metabolism reports · 2026Article
- Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.JIMD reports · 2026Article
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.Journal of clinical medicine · 2026Article
- Review
- Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary Involvement.Journal of inherited metabolic disease · 2025Article
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.Molecular genetics and metabolism reports · 2025Article
- Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.Orphanet journal of rare diseases · 2025Article
- Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.Journal of inherited metabolic disease · 2025Article
- 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
- Review
- Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.JIMD reports · 2024Article
- Acid sphingomyelinase deficiency in France: a retrospective survival study.Orphanet journal of rare diseases · 2024Article
- A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.Orphanet journal of rare diseases · 2024Observational
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundAcid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical features of chronic forms of ASMD and disease burden over time in children and adults.
resultsFifty-nine patients (31 males/28 females) ranging in age from 7 to 64 years with chronic ASMD types A/B and B and at least two disease symptoms participated from 5 countries. Disease characteristics were assessed at baseline, after 1 year, and at the final visit (ranging from 4.5 to 11 years). Thirty patients (51%) were < 18 years at baseline (median age 12 years), and 29 were adults (median age 32 years). Overall, 32/59 patients completed the final visit, 9 died, 9 discontinued, and 9 were lost to follow up. Common clinical characteristics that tended to worsen gradually with time were splenomegaly, hepatomegaly, interstitial lung disease, lung diffusion capacity (DL
conclusionsThis study provides important information about the natural history of chronic ASMD and provides a longitudinal view of the spectrum of disease manifestations and major morbidities in children and adults and supports the selection of clinically meaningful endpoints in therapeutic trials.
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Registered trials
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