Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia

Hereditary Ataxia Clinical Trial

Official title:

Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05160870
• Other study ID #: Wulab-sNfL in HA
• Status: Recruiting
• Start date: June 30, 2021
• Est. completion date: December 25, 2025

Study information

• Verified date: November 2021
• Source: Second Affiliated Hospital, School of Medicine, Zhejiang University
• Contact: Yi Dong
• Phone: + 8618367129345
• Email: dongyi720[@]zju.edu.cn
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 25, 2025
• Est. primary completion date: December 25, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

Inclusion Criteria:

• genetically diagnosed as Spinocerebellar ataxia

Exclusion Criteria:

• deny follow-yp

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Hereditary Ataxia
• Spinocerebellar Degenerations

Locations

Country	Name	City	State
China	Second Affiliated Hospital, Zhejiang University School of Medicine	Hangzhou	Zhejiang

Sponsors (1)

Lead Sponsor	Collaborator
Second Affiliated Hospital, School of Medicine, Zhejiang University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Serum neurofilament light chain	Serum neurofilament light chain levels were collected among patients in preclinical or mild stage of Spinocerebellar ataxia, especially type 3.	from 2021 to 2025