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Identification and functional study of pathogenic variants in the family with inherited factor VII deficiency

Identification and functional study of pathogenic variants in the family with inherited factor VII deficiency

Status
Recruiting
Phases
Early Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2200061285
Enrollment
Unknown
Registered
2022-06-19
Start date
2022-06-06
Completion date
Unknown
Last updated
2023-03-26

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

Conditions

Hereditary factor VII deficiency

Interventions

Group 1 :

Sponsors

Zunyi Medical University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: Proband and family members with clinical diagnosis of hereditary factor VII deficiency.

Exclusion criteria

Exclusion criteria: Non-family members.

Design outcomes

Primary

MeasureTime frame
Whole Exome Sequencing;Sanger sequencing;Coagulation factor VII detection;Coagulation function test;Blood routine test;

Secondary

MeasureTime frame
Thrombelastography;Fluorescence quantitative PCR;Factor VII antigen detection;

Countries

China

Contacts

Public ContactHongsong Yu

Zunyi Medical University

yuhongsong@163.com+86 13368394403

Outcome results

None listed

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