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Clinical Trials/NL-OMON53364
NL-OMON53364
Not yet recruiting
Not Applicable

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

Radboud Universitair Medisch Centrum0 sites30 target enrollmentTBD
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ConditionsplaatjesaandoeningenRare bleeding disorders1006447710005330

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
plaatjesaandoeningen
Sponsor
Radboud Universitair Medisch Centrum
Enrollment
30
Status
Not yet recruiting
Last Updated
last year
OverviewInvestigatorsEligibility CriteriaOutcomesSimilar Trials

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
TBD
End Date
TBD
Last Updated
last year
Study Type
Observational invasive

Investigators

Eligibility 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

  • •no informed consent provided
  • •Opt\-out from incidental findings

Outcomes

Primary Outcomes

Not specified

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