Scientists track rare gene variant to unlock blood disorder mysteries
NCT ID NCT03854318
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study follows people of all ages who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and bone marrow over many years to understand how the condition develops. The goal is to improve diagnosis, monitoring, and eventually treatment for these rare inherited platelet disorders.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this research could lead to better ways to diagnose and monitor familial platelet disorders, and possibly point toward future treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and findings may take years to translate into clinical practice.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••