Scientists hunt for hidden genes behind common bleeding disorder
NCT ID NCT05116501
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study examined the DNA of 254 people to find genetic changes that might explain why some individuals have mildly low levels of von Willebrand factor, a protein important for blood clotting. Researchers used whole-exome sequencing to look for variants in known and new genes. The goal was to better understand the causes of this condition, which affects about 1% of the population.
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 could help doctors better understand the genetic causes of low VWF levels, potentially leading to improved diagnosis and personalized care for people with mild bleeding disorders.
- What could go wrong
- This is a completed observational study, not a treatment trial. It only looks for genetic links and does not test any therapy, so it cannot directly improve health or cure the condition.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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254 people
The number who actually took part.
- Started
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Mar 2022
- Finished
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Oct 2025
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria for patients: * Adult patients who were diagnosed with "low VWF" and have VWF:Ag and/or VWF:RCo between 30-50 IU/dL with a ratio of VWF:RCo/VWF:Ag \> 0.6. * Subjects who have given informed consent to participate in the study according to the Declaration of Helsinki Inclusion Criteria for healthy controls: * Healthy subjects with no known bleeding disorders and with negative thrombophilia screening results * Subjects who have given informed consent to participate in the study according to the Declaration of Helsinki Exclusion Criteria: * Pregnant women * Patients with acquired von Willebrand disease syndrome
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Genom att skicka in godkänner du våra Användarvillkor
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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Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, A.B.Bonomi Hemophilia and Thrombosis Center
Milan, Lombardy, 20122, Italy