Molecular genetic analysis of patients with coagulation disorders - especially with platelet alpha- and/or delta secretion disorder.

Recruiting

• Conditions: D69.1; D68.9; I82.9; Qualitative platelet defects; Coagulation defect, unspecified; Embolism and thrombosis of unspecified vein

• Registration Number: DRKS00004374
• Lead Sponsor: Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2012-09-11
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

increased bleeding symptoms, impaired platelet alpha- and delta-granula secretion defect

Exclusion Criteria

lack of patient's or parents' consent for the molecular genetic diagnostics

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
As soon as the diagnosis of the platelet disorder has been received, the molecular genetic analysis is initiated. As soon as the results of the clinical, biochemical and molecular genetic investigations have been received, the correlation between geno- and phaenotype is initiated.