Genotype-phenotype Correlation and Pathogenic Mechanism i... | NCT05160870

Studies
Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia

NCT05160870

Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Status

Unknown status

Last Update Posted

Jan 12, 2022Actual

Enrollment

500Estimated

Phase

Not provided

Conditions

Hereditary Ataxia

Interventions

Not provided

Countries

China

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2021

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 30, 2021Actual

Primary Completion Date

Dec 25, 2022Estimated

Completion Date

Dec 25, 2025Estimated

First Submitted Date

Dec 6, 2021

First Submission Date that Met QC Criteria

Dec 6, 2021

First Posted Date

Dec 16, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 22, 2021

Last Update Posted Date

Jan 12, 2022Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

500Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

genetically diagnosed as Spinocerebellar ataxia

Exclusion Criteria:

deny follow-yp

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

65 Years

Standard Ages

AdultOlder Adult

Study Population

patients with Spinocerebellar ataxia

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Yi Dong	Contact	+ 8618367129345		dongyi720@zju.edu.cn

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Second Affiliated Hospital, Zhejiang University School of Medicine	Recruiting	Hangzhou	Zhejiang	310005	China

Condition Browse Module

MeSH Terms

ID	Term
D013132	Spinocerebellar Degenerations

Ancestor Terms

ID	Term
D002526	Cerebellar Diseases
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided