Understanding the relationship between genetics and symptoms in hereditary ataxia
Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia
This study is trying to see if certain genetic markers can help us understand how severe hereditary ataxia is in patients over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 18 Years to 65 Years |
| Sex | All |
| Sponsor | Second Affiliated Hospital, School of Medicine, Zhejiang University Academic / other |
| Locations | 1 site (Hangzhou, Zhejiang) |
| Trial ID | NCT05160870 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify biomarkers, such as serum neurofilament light chain, that reflect the severity of hereditary ataxia over a long-term follow-up period. By analyzing a large cohort of patients diagnosed with Spinocerebellar ataxia, the study will utilize clinical scales and brain MRI tests to assess disease progression. The goal is to establish a correlation between genotype and phenotype to improve understanding of the disease mechanisms involved.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals who have been genetically diagnosed with Spinocerebellar ataxia.
Not a fit: Patients who are not genetically diagnosed or those who refuse follow-up will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnostic tools and treatment strategies for patients with hereditary ataxia.
How similar studies have performed: While there have been studies exploring biomarkers in ataxia, this specific approach focusing on genotype-phenotype correlation is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * genetically diagnosed as Spinocerebellar ataxia Exclusion Criteria: * deny follow-yp
Where this trial is running
Hangzhou, Zhejiang
- Second Affiliated Hospital, Zhejiang University School of Medicine — Hangzhou, Zhejiang, China (Recruiting)
Study contacts
- Study coordinator: Yi Dong
- Email: dongyi720@zju.edu.cn
- Phone: + 8618367129345
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.