Single-cell RNA sequencing analysis on the pathological mechanism of PKAN

Status

Recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2100045009

Enrollment

Unknown

Registered

2021-04-03

Start date

2021-03-31

Completion date

Unknown

Last updated

2021-11-08

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

Conditions

Pantothenate kinase-associated neurodegeneration

Interventions

PKAN group:None

PKAN family group:None

control group:None

Eligibility

Sex/Gender

All

Age

18 Years to 70 Years

Inclusion criteria

Inclusion criteria: PKAN group: 1. Conformed to the relevant gene phenotype; 2. MRI results indicated the iron deposition of PKAN; 3. There are obvious extrapyramidal symptoms;Agree to sign the informed consent. Family group: 1. Agree to sign the informed consent. The control group: 1. Aged 18-20 years; 2. Previous health, no family history of genetic diseases and blood system diseases; 3. Voluntarily signed the informed consent.

Exclusion criteria

Exclusion criteria: There were no exclusion criteria for the PKAN group and the family group. Exclusion criteria for control group: 1. Those who suffer from needle sickness or resistance during blood drawing; 2. People with mental illness or taking antipsychotic drugs; 3. Patients who have been determined by the investigator to be unsuitable for participation in this study.

Design outcomes

Primary

Measure	Time frame
Serum iron;Hemoglobin;	—

Countries

China

Contacts

Public ContactLin Qiang

The Fifth Affiliated Hospital of Guangzhou Medical University

ljj88961@gzhmu.edu.cn+86 13828405123

Outcome results

None listed

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