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A study on KARS mutations' effect and mechanism of action on brain myelin sheath

A study on KARS mutations' effect and mechanism of action on brain myelin sheath

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2300067526
Enrollment
Unknown
Registered
2023-01-10
Start date
2023-01-10
Completion date
Unknown
Last updated
2023-05-15

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

Conditions

white matter lesion, brain myelin sheath lesion

Interventions

R477H (+) group:N/A
P505S (+) group:N/A
R477H(+)& P505S(+)group:N/A
R477H (-) & P505S (-) group:N/A
Healthy control group:N/A

Sponsors

Shanghai Tongji Hospital, School of Medicine, Tongji University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: (1) patients who have white matter lesion in MRI scan, controls who are without white matter lesion and are age-matched with above patients and without exclusion criteria; (2) willing to sign an informed consent form.

Exclusion criteria

Exclusion criteria: (1) history of cerebral infarction, cerebral hemorrhage, brain tumors; (2) a history of brain surgery; (3) unable to complete clinical evaluation.

Design outcomes

Primary

MeasureTime frame
white matter lesion;TNF-a;IL-1ß;SOD;mitochondria;KARS gene;

Countries

China

Contacts

Public ContactXijin Wang

Shanghai Tongji Hospital, School of Medicine, Tongji University

wangxijin2004@163.com13651627382

Outcome results

None listed

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