Automated Multi-Modal Assessment of *Niemann-Pick Disease Type C* Progression via HyperScore-Driven Clinical Data Integration

**Abstract:** Niemann-Pick Disease Type C (NPC) is a rare, progressive neurodegenerative disorder characterized by lipid accumulation in various tissues, particularly the liver, spleen, and brain. Diagnosis and monitoring of disease progression are challenging, relying heavily on subjective clinical assessments and costly specialized tests. This paper introduces a novel framework for automated, objective assessment of NPC progression leveraging a multi-modal data integration pipeline and a probabilistic HyperScore system. Our framework demonstrates significantly improved accuracy in predicting disease severity and rate of progression compared to existing methods, offering a substantial advancement in clinical management of this devastating disease within a 5-10 year timeframe.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-09
DOI
https://doi.org/10.5281/zenodo.16785223
Primary Topic
Species Distribution and Climate Change
Type
article
Field-Weighted Citation Impact
0.00
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article

Automated Multi-Modal Assessment of *Niemann-Pick Disease Type C* Progression via HyperScore-Driven Clinical Data Integration

Zenodo (CERN European Organization for Nuclear Research)
Species Distribution and Climate Change
article

Automated Multi-Modal Assessment of *Niemann-Pick Disease Type C* Progression via HyperScore-Driven Clinical Data Integration

article en

Abstract

**Abstract:** Niemann-Pick Disease Type C (NPC) is a rare, progressive neurodegenerative disorder characterized by lipid accumulation in various tissues, particularly the liver, spleen, and brain. Diagnosis and monitoring of disease progression are challenging, relying heavily on subjective clinical assessments and costly specialized tests. This paper introduces a novel framework for automated, objective assessment of NPC progression leveraging a multi-modal data integration pipeline and a probabilistic HyperScore system. Our framework demonstrates significantly improved accuracy in predicting disease severity and rate of progression compared to existing methods, offering a substantial advancement in clinical management of this devastating disease within a 5-10 year timeframe.

Zenodo (CERN European Organization for Nuclear Research)
Freed–Hardeman University (US)
Openalex Percentile: Top 41%
Species Distribution and Climate Change
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