ArticleOrphanet journal of rare diseases2026
A suspicion index tool to aid the diagnosis and treatment of ASMD.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
backgroundThe diagnosis of acid sphingomyelinase deficiency (ASMD, Niemann Pick Type A, A/B, B) is frequently delayed by years, because of its heterogeneous and often unspecific clinical features. The involvement of multiple organs including the musculoskeletal and central nervous systems, poses a challenge for accurate diagnosis. To address this, we developed a suspicion index tool (SIT) for healthcare professionals to enable early and accurate diagnosis of ASMD.
methodsOur methodological approach encompasses five key steps: (i) literature research on ASMD symptomatology, (ii) retrospective expert chart review of international ASMD centers, (iii) retrospective statistical analysis, (iv) development of an individual risk prediction score via random forest regression, and multinomial modeling, (v) internal validation of the tool via bootstrap resampling.
resultsData were collected from 908 patients (48 cases, 52 controls, and 808 non-cases) from eight expert centers. Visceral symptoms emerged as strong indicators of ASMD, particularly isolated unexplained splenomegaly (100% of cases vs. 71% of controls and 0.4% of non-cases) and hepatomegaly (92% of cases vs. 56% of controls and 0.4% of non-cases). Respiratory symptoms, thrombocytopenia, and hypercholesterolemia were also identified as significant indicators. These variables were selected for inclusion in the final SIT using a best subset selection algorithm. Each variable composition was evaluated via extensive repetitions. Additionally, expert input was sought to assess the significance of selected variables. The SIT demonstrated superior accuracy, sensitivity, specificity, and internal validity, confirming its reliability.
conclusionsThe SIT is currently under development as a web-based platform for facilitating the diagnosis of ASMD and other treatable diseases in at-risk populations.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.