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Scientists hunt for hidden genetic causes of rare bleeding disorder

NCT ID NCT07674381

Knowledge-focused Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 29, 2026 · Last updated Jun 30, 2026 · Updated 1 time

Summary

This study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well drugs like Eltrombopag might work for each person. The goal is to improve diagnosis and personalize future treatments.

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 uncover new genetic forms of inherited thrombocytopenias and enable personalized treatment predictions.
What could go wrong
This is an observational and laboratory-based study, not a treatment trial. Findings may not translate into immediate clinical benefits.

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.

Participants

159 people

The number who actually took part.

Started

Sep 2020

Finished

Dec 2025

Lead sponsor

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.

Who is studied

All patients affected with an IT who have not received a diagnosis of certainty will be considered eligible for enrollment, despite the application of a validated diagnostic algorithm.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show 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: 1. Exclusion of any known IT after the application of a validated diagnostic algorithm based on clinical and laboratory criteria; 2. Absence of mutations in genes known to be causative for IT; 3. Acquisition of written informed consent. Exclusion Criteria: \-

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Conditions

The condition(s) this trial relates to.

inherited thrombocytopenia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Inherited thrombocytopenias

Contacts and locations

Locations

  • Medicina Generale 1, Fondazione IRCCS Policlinico San Matteo

    Pavia, 27100, Italy