Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD
Event: WORLDSymposium 2024 San Diego, USA Authors: M. Domenica Cappellini, R. Giugliani, M. Törnqvist, P. Guilmin, C.Clémente, M. Montmerle, A. Chiorean, T. Reppelin, Stefaan Sansen, Alexandra Dumitriu, Neha Shah, Maja Gasparic View Poster Abstract Acid sphingomyelinase deficiency (ASMD) is a rare and debilitating lysosomal storage disease and delays in diagnosis are common. We employed machine learning (ML) on electronic health […]
Machine learned decision tree for diagnosis of ASMD among patients with unexplained Interstitial Lung Disease
Event: European Respiratory Society (ERS) International Congress 2023, Milan, Italy Authors: I. Noth, F. Bonella, W.A. Wuyts,P. Guilmin, M. Törnqvist, S. Sansen, A. Dumitriu, N. Shah, M. Gasparic, M. Montmerle View Poster Background Patients with acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, suffer interstitial lung disease (ILD) as a common clinical manifestation. Patients […]
Development of a rare disease algorithm to identify persons at risk of Gaucher disease using Electronic Health Records (EHR) in the United States
Publisher: Orphanet Journal of Rare DiseasesAuthors: A. Wilson, A. Chiorean, M. Aguiar, D. Sekulic, P. Pavlick, N. Shah, L. Sniderman King, M. Génin, M. Rollot, M. Blanchon, S. Gosset, M. Montmerle, C. Molony, A. Dumitriu View publication Background Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, […]
Hemolytic Markers, Mortality and Thromboembolic events in Cold Agglutinin Disease (CAD) with risk assessment by disease duration
Event: European Hematology Association (EHA) Congress 2023, Frankfurt, Germany Authors: Q.A. Hill, W. Barcellini, A. Röth, A. Karaouni, M. Afonso, R. Yoo, J. Tanniou, J. Rubio, C. Broome View Poster Background Cold agglutinin disease (CAD) is a rare autoimmune hemolytic anemia (AIHA) characterized by classical complement pathway-mediated hemolysis. Although there is consensus on an increased […]
Cluster analysis of kidney function decline among males with Fabry disease in a large United States electronic health records database
Publisher: ndt (Nephrology Dialysis Transplantation)Authors: A. Chiorean, N. Lyn, S. Kabadi, M. Blanchon, P. Hayat, P. Loustalot, M. Maski, M. Montmerle, E. Ponce View publication Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A activity. The spectrum of disease includes phenotypes ranging from ‘classic’ to ‘later-onset’, with varying kidney disease progression. Identifying patterns of declining kidney function […]
Epidemiology, treatment patterns, clinical outcomes, and disease burden among patients with immune‐mediated thrombotic thrombocytopenic purpura in the United States
Publisher: Research and practice in thrombosis and haemostasis (rpth)Authors: A. Adeyemi, F. Razakariasa, A. Chiorean, R. de Passos Sousa View publication Background Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) is a life‐threatening thrombotic microangiopathy. Due to its rarity, epidemiology and real‐world outcomes data are scarce. Objectives The aim was to assess epidemiology, treatment patterns, clinical outcomes, and […]
Identifying patients with Gaucher Disease type 3 (GD3) in the Optum’s de-identified Market Clarity database: a clustering analysis
Event: WORLD Symposium 2022, San Diego, CA, USA Authors: C. Rochmann, M. Génin, M. Blanchon, N. Lambert, L. Deplante, W. Heine, S.Kabadi View Poster Objectives GD3 is a progressive, Lysosomal Storage Disorder (LSD), distinguished from GD1 by early heterogenous neurological manifestations. Neurological presentation in GD1 patients is not well understood. Differentiation of GD3 from GD1 […]
Clustered analysis of Fabry disease progression in a large US electronic health records database (Optum Market Clarity): A retrospective observational cohort study
Event: WORLD Symposium 2022, San Diego, CA, USA Authors: A. Chiorean, S. Kabadi, P. Hayat, M. Montmerle, E. Ponce, M. Blanchon, N. Lyn, M. Maski View Poster Introduction: As the spectrum of Fabry phenotypes remains uncertain, the study objective was to describe patterns of progression in untreated Fabry disease (FD) patients from a large electronic […]
