Research Background

Niemann-Pick disease type C (NPC) is a rare, progressive neurodegenerative disorder that affects the brain, liver, spleen, and other organs. There are currently no approved therapies, and clinical manifestations vary widely among patients.

Design and Data Collection

Participants are individuals of any age who have received an NPC diagnosis. A single venous blood draw will be performed for DNA analysis. Medical records and symptom histories will also be collected to construct a comprehensive clinical and genetic dataset.

Expected Impact and Differentiation

This project will create the first and largest genomic‑phenotypic database for NPC. The resource will enable precise mechanistic studies, identification of novel biomarkers, and discovery of therapeutic targets.

Industry and Research Implications

Natural‑history data serve as critical inputs for pharmaceutical and biotech companies to shape NPC drug development strategies and improve the efficiency of clinical trial design. Public release of the dataset will also broaden collaboration opportunities between academia and industry.

Future Utilization Plans

The database will be made available as an open‑access resource, allowing researchers worldwide to explore genotype‑phenotype correlations and to prioritize candidate therapeutic compounds.