Investigation on associations of genotype and phenotype in patients with Dysfibrinogenemia

Investigation on associations of genotype and phenotype in patients with Dysfibrinogenemia - DYSFIB

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00014093

Enrollment

100

Registered

2019-09-24

Start date

2019-06-16

Completion date

Unknown

Last updated

2026-01-12

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

Conditions

D68.2

Interventions

Group 1: In the study the clinical phenotype of approximately 100 patients with dysfibrinogenemia should be investigated by means of an adapted self-questionnaire for rare bleeding disorders. The aim

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patient with verified dysfibrinogenemia, hypofibrinogenemia or afibrinogenemia and determined mutation in the gene data base or new patient with suspected dysfibrinogenemia and fibrinogen level <2mg/ml

Exclusion criteria

Exclusion criteria: no informed consent

Design outcomes

Primary

Measure	Time frame
gene mutation in FGA or FGB, bleeding questionnaire for rare bleeding disorders	—

Secondary

Measure	Time frame
fibinogen level mg/ml (immunolgical), fibrinogen level mg/ml (Clauss), clinical symptoms, thrombosis/obsteric complications (questionnaire)	—

Countries

Germany

Contacts

Public ContactWolfgang Miesbach

Hämophiliezentrum, Institut für Transfusionsmedizin, Medizinische Klinik III, Goethe Universitätsklinikum

wolfgang.miesbach@kgu.de06963015051

Outcome results

None listed

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