Study of Hereditary Ataxia Using Multi-Omics and Clinical Data in the Yangtze River Delta Region

What this Trial Is About

Researchers are conducting an observational study to explore the clinical and genetic features, multi-omics profiles, disease mechanisms, biomarkers, and potential treatment targets of hereditary ataxia HA in patients mainly from the Yangtze River Delta region of China. The study aims to identify key genetic variants, inheritance patterns, and how multi-omics data relate to disease progression and clinical symptoms. It seeks to apply these findings to improve clinical care for HA. Participants with HA will not receive any specific intervention but will be followed over time using an ambispective cohort design that collects both past and future clinical data. Biological samples such as blood and skin will be collected to create a biobank for multi-omics analysis. The research involves using genomics, transcriptomics, epigenomics, and other technologies to uncover molecular signatures and disease mechanisms. During the study, participants will undergo long-term follow-up assessments including clinical evaluations and cognitive tests such as SARA, ICARS, SDFS, MMSE, and MoCA scores over 10 years. Researchers will also measure genomic variants, gene causative factors, serum neurofilament light chain levels, and genome-wide methylation profiles. The goal is to thoroughly document disease onset, progression, and outcomes while monitoring biomarkers and genetic data for up to 10 years or until causative genes are identified.

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