Molecular genetic analysis of patients with Bernard Soulier syndrome

Molecular genetic analysis of patients with Bernard Soulier syndrome - BSS

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00004372

Enrollment

Registered

2012-09-11

Start date

2009-10-01

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

Interventions

Group 1: As soon as the diagnosis BSS is suspected, flow cytometry of platelets and molecular genetic analysis will be performed.

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: bleeding symptoms, thrombocytopathy, giant platelets, thrombocytopenia, impaired platelet agglutination after stimulation with Ristocetin.

Exclusion criteria

Exclusion criteria: lack of patient's or parents' consent to perform molecular genetic analysis.

Design outcomes

Primary

Measure	Time frame
As soon as the diagnosis Bernard Soulier syndrome has been confirmed by using platelet aggregation and flowcytometry, the molecular genetic analyses are initiated. As soon as the clinical, biochemical and molecular genetic parameters are received, the genotype/phaenotype-correlation 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