Yangtze Delta hereditary ataxia multi-omics and clinical cohort

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

This project will follow people with hereditary ataxia in the Yangtze River Delta and use multi-omics testing to see if genetic variants, molecular biomarkers, and disease mechanisms can be identified.

Quick facts

• Study type: Observational
• Enrollment: 5000 (estimated)
• Sex: All
• Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University (other)
• Locations: 2 sites (Hangzhou, Zhejiang and 1 other locations)
• Trial ID: NCT07092358 on ClinicalTrials.gov

What this trial studies

This ambispective cohort combines retrospective record review with prospective long-term follow-up of patients with progressive hereditary ataxia in the Yangtze River Delta. Participants provide blood and skin samples for a biobank and undergo standardized clinical phenotyping. Multi-omics analyses (genomics, transcriptomics, epigenomics, etc.) will be used to correlate molecular profiles with clinical onset, progression, and outcomes. The integrated dataset is intended to identify pathogenic variants, modifying factors, biomarkers, and potential therapeutic targets to support precision diagnosis and future translational work.

Who should consider this trial

Good fit: Ideal candidates are people with progressive ataxia suspected to be hereditary who have had acquired causes excluded, can consent, and can attend follow-up visits at participating centers.

Not a fit: Patients whose genetic findings fall outside the defined hereditary ataxia spectrum or who cannot provide biospecimens or complete follow-up are unlikely to benefit from this project.

Why it matters

Potential benefit: If successful, the project could enable more precise genetic diagnoses, identify biomarkers to track disease progression, and highlight targets for future therapies for hereditary ataxia patients.

How similar studies have performed: Previous genetic and multi-omics cohorts in hereditary ataxia have identified causative variants and candidate biomarkers, but large ambispective multi-omics cohorts focused on this regional population are relatively novel.

Eligibility criteria

Inclusion Criteria:

* Presence of progressive ataxia as a primary or persistent clinical feature;
* Sufficient evidence to exclude acquired causes of ataxia (e.g., chronic intoxication, immune-mediated inflammation, acquired vitamin deficiency, acute injury, stroke, infection, or space-occupying disorders);
* For sporadic late-onset cases (≥30 years), disease duration must exceed 3 years, with no prominent progressive autonomic dysfunction or other features indicative of multiple system atrophy-cerebellar type (MSA-C);
* Ability and willingness of the participant or legal guardian to provide informed consent and complete the entire study process.

Exclusion Criteria:

* Patients whose causative genes identified through genetic testing and analysis do not fall within the defined spectrum of hereditary ataxias, based on consensus classifications from the MDS Task Force on Genetic Movement Disorders and the SRCA Working Group, along with current research advancements;
* Presence of concurrent cerebrovascular disease, brain tumors, or severe systemic illness;
* Refusal to sign informed consent or provide biological samples by the participant or legal representative;
* Inability or unwillingness to participate in follow-up assessments.

Where this trial is running

Hangzhou, Zhejiang and 1 other locations

• Second Affiliated Hospital of Zhejiang University School of Medicine — Hangzhou, Zhejiang, China (RECRUITING)
• Huashan Hospital, Fudan University — Shanghai, China (RECRUITING)

Study contacts

• Study coordinator: Jin-Yang Yu

Conditions: Hereditary Ataxia, multiomics, clinical and genetic characteristics