Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia

Recruiting

• Conditions: Hereditary Ataxia

• Registration Number: NCT05160870
• Lead Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University

Brief Summary

The investigators aimed to find appropriate biomarkers such as serum neurofilament light chain in reflecting disease severity in hereditary ataxia from a large cohort during long-term follow-up. The disease severity is indicated by clinical scales and brain MRI tests.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-06-30
• Status Verified: 2021-11
• Study First Submitted: 2021-12-06
• Study First Submitted QC: 2021-12-06
• Study First Posted: 2021-12-16
• Last Update Submitted: 2021-12-22
• Last Update Posted: 2022-01-12
• Primary Completion: 2022-12-25
• Study Completion: 2025-12-25

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

• genetically diagnosed as Spinocerebellar ataxia

Exclusion Criteria

• deny follow-yp

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Serum neurofilament light chain	from 2021 to 2025	Serum neurofilament light chain levels were collected among patients in preclinical or mild stage of Spinocerebellar ataxia, especially type 3.

Trial Locations

Locations (1)

Second Affiliated Hospital, Zhejiang University School of Medicine; 🇨🇳 Hangzhou, Zhejiang, China