Screening of pathogenic variation and its mechanism in neurogenetic diseases

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2300075402

Enrollment

Unknown

Registered

2023-09-04

Start date

2023-08-31

Completion date

Unknown

Last updated

2023-09-11

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

Conditions

neurogenetic diseases

Interventions

Case series:None

Eligibility

Sex/Gender

All

Age

No minimum to 100 Years

Inclusion criteria

Inclusion criteria: 1. The family progenitor meets the diagnostic criteria for hereditary diseases of nervous system; 2. Participate in the study voluntarily and sign the informed consent.

Exclusion criteria

Exclusion criteria: 1. Suffering from serious endocrine or metabolic diseases; 2. Previous craniocerebral injury (physical and chemical) with a history of coma; 3. The inspection does not conform to the author or can not effectively complete the inspection; 4. Those who have fixed metal dentures, pacemakers or metal prosthesis implants.

Design outcomes

Primary

Measure	Time frame
genotype;	—

Secondary

Measure	Time frame
Image index;electrophysiological index;Biochemical indexes;transcriptome;metabolome;proteome;	—

Countries

China

Contacts

Public ContactXiaoying Zhang

Hangzhou Seventh People's Hospital

xyzhang004@163.com+86 159 5710 4191

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026