Scientists track rare gene variant to unlock blood disorder mysteries
NCT ID NCT03854318
First seen Jun 27, 2026 · Last updated Aug 13, 2026 · Updated 6 times
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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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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
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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