Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia

Second Affiliated Hospital, Zhejiang University, School of Medicine500 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

500

Conditions

Hereditary Ataxia

Eligibility

Sex: ALLMin age: 18 YearsMax age: 65 Years

Medical Language ↔ Plain English

Inclusion Criteria: * genetically diagnosed as Spinocerebellar ataxia Exclusion Criteria: * deny follow-yp

Locations (1)

Second Affiliated Hospital, Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

RECRUITING

Outcomes

Primary Outcomes

Serum neurofilament light chain

Serum neurofilament light chain levels were collected among patients in preclinical or mild stage of Spinocerebellar ataxia, especially type 3.

Time frame: from 2021 to 2025

Central Contacts

Yi Dong

CONTACT

+ 8618367129345 dongyi720@zju.edu.cn

Data from ClinicalTrials.gov

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