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

Identification and functional characterization of causal genetic variants in patients with an unexplained bleeding tendency - Unraveling the genetics of rare bleeding disorders

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53364

Enrollment

Registered

2023-03-14

Start date

2024-09-16

Completion date

Unknown

Last updated

2026-03-16

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

Conditions

Rare bleeding disorders Rare bleeding disorders

Interventions

None

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: no informed consent provided Opt-out from incidental findings

Design outcomes

Primary

Measure	Time frame
Proven causality of a genetic variant for unexplained bleeding tendency of a patient.	—

Secondary

Measure	Time frame
- To establish a causal relationship between genetic variants and bleeding phenotype - To improve the diagnostic yield for WES analysis in patients with unexplained bleeding tendency	—

Countries

Netherlands

Contacts

Public ContactSR Rijpma

Radboud Universitair Medisch Centrum

sanna.rijpma@radboudumc.nl0631015192

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP) · Data processed: Mar 20, 2026