Identification and functional characterization of causal genetic variants in patients with an unexplained bleeding tendency

• Conditions: plaatjesaandoeningen; Rare bleeding disorders; 10064477; 10005330

• Registration Number: NL-OMON53364
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 30

Inclusion Criteria

1. Patient has previously undergone a diagnostic WES analysis and provided
written informed consent for unrestricted exome analysis and data sharing
OR Patient has a severe bleeding tendency (ISTH-BAT >10) of unknown (genetic)
origin and is part of a family with at least 3 family members with an elevated
ISTH-BAT score (male >= 4, female >= 6).
a. Participant is a family member (affected or unaffected) of an index patient

Exclusion Criteria

no informed consent provided
Opt-out from incidental findings

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Proven causality of a genetic variant for unexplained bleeding tendency of a<br /><br>patient.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- To establish a causal relationship between genetic variants and bleeding<br /><br>phenotype<br /><br>- To improve the diagnostic yield for WES analysis in patients with unexplained<br /><br>bleeding tendency</p><br>