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

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

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00004374
Enrollment
20
Registered
2012-09-11
Start date
2010-11-01
Completion date
Unknown
Last updated
2025-04-07

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

Conditions

D69.1 D68.9 I82.9

Interventions

Group 1: If a platelet defect is assumed, the biochemical and then the molecular genetic defect in the patient will be analysed.

Sponsors

Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

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

Exclusion criteria

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

Design outcomes

Primary

MeasureTime frame
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.

Countries

Germany

Contacts

Public ContactBarbara Zieger

Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg

Barbara.Zieger@uniklinik-freiburg.de0761 270 43000

Outcome results

None listed

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