Actively Recruiting
Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
Led by Second Affiliated Hospital, School of Medicine, Zhejiang University · Updated on 2025-07-29
5000
Participants Needed
2
Research Sites
552 weeks
Total Duration
On this page
Sponsors
S
Second Affiliated Hospital, School of Medicine, Zhejiang University
Lead Sponsor
H
Huashan Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Presence of progressive ataxia as a primary or persistent clinical feature
- Sufficient evidence to exclude acquired causes of ataxia such as chronic intoxication, immune-mediated inflammation, acquired vitamin deficiency, acute injury, stroke, infection, or space-occupying disorders
- For sporadic late-onset cases (aged 30 years or older), disease duration must exceed 3 years with no prominent progressive autonomic dysfunction or features indicating 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
You will not qualify if you...
- Causative genes identified through genetic testing that do not fall within the defined spectrum of hereditary ataxias based on consensus classifications and current research
- 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
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Second Affiliated Hospital of Zhejiang University School of Medicine
Hangzhou, Zhejiang, China, 310009
Actively Recruiting
2
Huashan Hospital, Fudan University
Shanghai, China, 200040
Actively Recruiting
Research Team
J
Jin-Yang Yu
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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