Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05160870

Enrollment

500

Registered

2021-12-16

Start date

2021-06-30

Completion date

2025-12-25

Last updated

2022-01-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary Ataxia

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 65 Years

Healthy volunteers

Inclusion criteria

* genetically diagnosed as Spinocerebellar ataxia

Exclusion criteria

* deny follow-yp

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

China

Contacts

Primary ContactYi Dong

dongyi720@zju.edu.cn+ 8618367129345

Outcome results