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Background <p>Research on rare genetic diseases is challenging due to their low prevalence and complex clinical manifestations. Despite their individual rarity, the cumulative burden of these diseases is substantial. Larger claims databases could enable a quantification and characterization of patients with rare diseases and contribute to determining their specific healthcare needs. This study examines the prevalence, comorbidities, and annual direct costs of Huntington’s disease (HD), Beta-Thalassemia (BT), and Spinal Muscular Atrophy type 1 (SMA type 1) in Germany.</p> Methods <p>Utilizing anonymized claims data from the InGef research database, we conducted a cross-sectional analysis for each disease from 2017 to 2023. Patients and comorbidities were identified based on ICD-10-GM-codes. Prevalence was extrapolated to the German population. Costs were analyzed as direct costs per patient and by sector incurred.</p> Results <p>Prevalences for the selected diseases were 6.65 (HD), 12.81 (BT), and 1.24 (SMA type 1) patients per 100,000 persons in Germany in 2023. The most frequent comorbidities identified are strongly related to the specific disease. For instance, in 2023, among the most common diagnoses were depression in HD patients (38.48%), dorsalgia in BT patients (37.03%), and acute upper respiratory infections in SMA type 1 patients (45.19%). Average total direct costs in 2023 amounted to 9,527.89 € for HD, 6,656.27 € for BT and 144,585.02 € for SMA type 1, respectively.</p> Conclusion <p>Claims data enable robust identification and characterization of rare disease populations. The findings on prevalences and comorbidities align with existing literature and support the use of such data for treatment planning and post-marketing studies.</p>

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Epidemiology and economic burden of selected rare genetic diseases in Germany – a claims database study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月28日

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  • Marion Ludwig,
  • Marco Alibone,
  • Raeleesha Norris,
  • Josephine Jacob,
  • Vukasin Viskovic,
  • Anja Cengia,
  • Dominik Obermüller

摘要

Background

Research on rare genetic diseases is challenging due to their low prevalence and complex clinical manifestations. Despite their individual rarity, the cumulative burden of these diseases is substantial. Larger claims databases could enable a quantification and characterization of patients with rare diseases and contribute to determining their specific healthcare needs. This study examines the prevalence, comorbidities, and annual direct costs of Huntington’s disease (HD), Beta-Thalassemia (BT), and Spinal Muscular Atrophy type 1 (SMA type 1) in Germany.

Methods

Utilizing anonymized claims data from the InGef research database, we conducted a cross-sectional analysis for each disease from 2017 to 2023. Patients and comorbidities were identified based on ICD-10-GM-codes. Prevalence was extrapolated to the German population. Costs were analyzed as direct costs per patient and by sector incurred.

Results

Prevalences for the selected diseases were 6.65 (HD), 12.81 (BT), and 1.24 (SMA type 1) patients per 100,000 persons in Germany in 2023. The most frequent comorbidities identified are strongly related to the specific disease. For instance, in 2023, among the most common diagnoses were depression in HD patients (38.48%), dorsalgia in BT patients (37.03%), and acute upper respiratory infections in SMA type 1 patients (45.19%). Average total direct costs in 2023 amounted to 9,527.89 € for HD, 6,656.27 € for BT and 144,585.02 € for SMA type 1, respectively.

Conclusion

Claims data enable robust identification and characterization of rare disease populations. The findings on prevalences and comorbidities align with existing literature and support the use of such data for treatment planning and post-marketing studies.