Clinical Research Directory

Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta

Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University

Summary

The goal of this observational study is to explore the clinical and genetic characteristics, multi-omics profiles, disease mechanisms, biomarkers, and potential therapeutic targets of hereditary ataxia (HA) in patients diagnosed with HA, primarily in the Yangtze River Delta region of China. The main questions it aims to answer are: * What are the key pathogenic genetic variants, modifying factors and special inheritance patterns underlying HA? * How do multi-omics profiles correlate with clinical phenotypes, disease progress and mechanism in HA patients? * What are the implications of these findings for clinical practice? Participants will: * Undergo retrospective and prospective clinical data collection through long-term follow-up to observe disease onset, progression, and outcomes. * Provide biological samples (e.g., blood, skin) to establish a biobank for multi-omics analyses. * Be characterized using multidimensional omics technologies to identify disease-related molecular signatures, progression mechanisms, and potential regulatory targets.

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