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. 2023 May;40(5):2234-2248.
doi: 10.1007/s12325-023-02453-w. Epub 2023 Mar 10.

Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis

Ruth Pulikottil-Jacob  1 , Michael L Ganz  2 , Marie Fournier  3 , Natalia Petruski-Ivleva  4
Affiliations

Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis

Ruth Pulikottil-Jacob et al. Adv Ther. 2023 May.

Abstract

Introduction: Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease. Patients with ASMD type B experience multiple morbidities, potentially leading to early mortality. Before the 2022 approval of olipudase alfa for non-neuronopathic ASMD manifestations, only symptom management was offered. Data on healthcare services used by patients with ASMD type B are limited. This analysis used medical claims data to evaluate real-world healthcare service use by patients with ASMD type B in the United States of America (USA).

Methods: The IQVIA Open Claims patient-level database (2010-2019) was cross-examined. Two patient cohorts were identified: the primary analysis cohort, which included patients with at least two claims associated with ASMD type B (ICD-10 code E75.241) and more total claims with ASMD type B than any other ASMD types, and the sensitivity analysis cohort, which included patients with a high probability of having ASMD type B identified using a validated machine-learning algorithm. Claims for ASMD-associated healthcare services were recorded, including outpatient visits, emergency department (ED) visits, and inpatient hospitalizations.

Results: The primary analysis cohort included 47 patients; a further 59 patients made up the sensitivity analysis cohort. Patient characteristics and healthcare service use were similar in both cohorts and were consistent with established characteristics of ASMD type B. Overall, 70% of the primary analysis cohort from this study were aged < 18 years, and the liver, spleen, and lungs were the most frequently affected organs. Cognitive, developmental, and/or emotional problems and respiratory/lung disorders caused most outpatient visits; respiratory/lung disorders accounted for most ED visits and hospitalizations.

Conclusion: This retrospective analysis of medical claims data identified patients with ASMD type B who had characteristics typical of this condition. A machine-learning algorithm detected further cases with a high probability of having ASMD type B. High use of ASMD-related healthcare services and medications was observed in both cohorts.

Keywords: ASMD; Acid sphingomyelinase deficiency; Claims; Healthcare resource utilization; Niemann–Pick; Real-world evidence.

Plain language summary

Acid sphingomyelinase deficiency (ASMD) type B, historically known as Niemann–Pick type B, is a rare illness. People with acid sphingomyelinase deficiency type B experience damage to many organs of the body (such as the liver and lungs), which may lead to early death. Until recently, no treatment has been available, and people were only treated for their symptoms. Now, a treatment called olipudase alfa has been approved in Europe, Japan, and the USA. People with ASMD type B may need lots of tests, surgeries, medications, and physician visits; however, we do not know how often these healthcare services are used. This study used medical claims to find out more about the healthcare services used by people with ASMD type B. To find as many people with ASMD type B as possible, we identified two groups of people. The first group included people with diagnosis codes for ASMD type B, the other group was identified as having a high likelihood of ASMD type B. The people in each group were similar in age and the illnesses/symptoms they had. The liver, spleen, and lungs were the most frequently damaged organs, and most physician visits were for mental, developmental, and/or emotional problems, and breathing or lung diseases. Breathing or lung disease and bleeding problems caused the most emergency department visits and hospitalizations. Overall, the use of healthcare services was high in people with ASMD type B. This study shows the need for specific treatments for people with ASMD.

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Conflict of interest statement

Michael L. Ganz is an employee of Evidera Inc., an independent research company that received payment from Sanofi for conducting this study, and a minor shareholder of ThermoFisher Scientific. Ruth Pulikottil-Jacob, Marie Fournier, and Natalia Petruski-Ivleva: Employees and shareholders of Sanofi.

Figures

Fig. 1
Fig. 1
Study period schematic
Fig. 2
Fig. 2
Patient disposition for the primary and sensitivity analysis cohorts. *ASMD was historically known as Niemann–Pick disease. †One patient was excluded because of missing age data and insufficient follow-up period (index date and end of follow-up occurred on the same date). ‡Patients were not included in the model as part of the training or scoring set as a result of not having sufficient history. § Patients eligible for analysis based on data sharing restrictions. ASMD acid sphingomyelinase deficiency, ICD-10-CM International Classification of Diseases, Tenth Revision, Clinical Modification
See this image and copyright information in PMC

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