Investigation on the association of genotype and phenotype in patients with Factor VII-Deficiency

Investigation on the association of genotype and phenotype in patients with Factor VII-Deficiency - FVII_Def_IIT

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00036813

Enrollment

150

Registered

2025-05-06

Start date

2025-09-01

Completion date

Unknown

Last updated

2025-10-06

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

Conditions

D68.23

Interventions

Group 1: Patients with Factor VII-deficiency and confirmed FVII mutation or polymorphism: genotype data will be set in relation to the coagulation status and clinical phenotype of patients

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: • Patients with Factor VII mutation or polymorphism confirmed by genetics diagnostic

Exclusion criteria

Exclusion criteria: • Patients under 18 years • Patients without confirmed Factor VII mutation or polymorphism

Design outcomes

Primary

Measure	Time frame
Gene mutation or polymorphism in the Factor VII gene (genotype)	—

Secondary

Measure	Time frame
• FVII activity, FVII antigen, further coagulation parameters • clinical course, therapy and outcome (phenotype) • bleeding events, severy, localisation • ISTH BAT Score (Bleeding Assessment Tool) • age at initial diagnosis, sex • anamnesis	—

Countries

Germany

Contacts

Public ContactWolfgang Miesbach

Hämophiliezentrum/Hämostaseologie, Universitätsklinikum Frankfurt

Wolfgang.miesbach@unimedizin-ffm.de+496963015051

Outcome results

None listed

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