Investigation on associations of genotype and phenotype in patients with Dysfibrinogenemia

• Conditions: D68.2; Hereditary deficiency of other clotting factors

• Registration Number: DRKS00014093
• Lead Sponsor: Klinikum der Johann Wolfgang Goethe-Universität Frankfurt am Main

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2019-09-24
• Study Completion: 2020-12-31
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 69

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

no informed consent

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
gene mutation in FGA or FGB, bleeding questionnaire for rare bleeding disorders

Secondary Outcome Measures

Name	Time	Method
fibinogen level mg/ml (immunolgical),<br>fibrinogen level mg/ml (Clauss),<br>clinical symptoms, thrombosis/obsteric complications (questionnaire)