Inherited ThrombocytopeniasNCT07674381
Inherited Thrombocytopenias: Discovering the "New" Forms That Affect Half of Patients and Developing an in Vitro Tool for Testing the Ability of New Drugs to Increase Platelet Production and Predicting the Response to Treatment in the Individual Patient
An observational study of Inherited Thrombocytopenias, run by Fondazione IRCCS Policlinico San Matteo di Pavia at 1 site in Italy.
Trial summary
Inherited thrombocytopenias (ITs) are rare conditions characterized by low platelet count resulting in impaired hemostasis. Recent advances revealed that several forms expose patients to the risk of developing additional and life-threatening disorders. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Inherited Thrombocytopenias
- How many people
- 159 participants
- Where
- 1 siteItaly
- Study dates
- 1 Sep 2020to 31 Dec 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Exclusion of any known IT after the application of a validated diagnostic algorithm based on clinical and laboratory criteria;
- Absence of mutations in genes known to be causative for IT;
- Acquisition of written informed consent.
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
Italy1 site
Medicina Generale 1, Fondazione IRCCS Policlinico San Matteo
Pavia, 27100
About this study
Inherited thrombocytopenias (ITs) are rare conditions characterized by low platelet count resulting in impaired hemostasis.
Recent advances revealed that several forms expose patients to the risk of developing additional and life-threatening disorders. Making a definite diagnosis is essential to identify patients' prognosis, personalize follow-up and treatment. Furthermore, Eltrombopag, an oral drug mimicking thrombopoietin (THPO), was able to increase the number of platelets in most of the few patients treated so far. Despite these advances, knowledge on ITs is still unsatisfactory, in that nearly half of patients have yet unknown forms. Moreover, the individual patient's response to Eltrombopag can't be predicted. This project wants to improve knowledge on ITs by two approaches: identification and characterization of new ITs; an in vitro bone marrow model not only for pre-clinical pharmacological studies of innovative drugs, but also for predicting individual response to treatment.
Read the detailed description
The major problems when dealing with Inherited thrombocytopenias (ITs) are:
- achieving a diagnosis of certainty;
- setting up a personalized and effective treatment.
- Near 50% of subjects remain without a diagnosis because they don't fit the diagnostic criteria for any known IT and don't have mutations in the causative genes identified so far. Our project, aimed at identifying new ITs by whole exome sequencing(WES) of a large number of subjects with unknow forms, will fill this gap; b)We want to improve therapy for ITs, which is presently mainly based on platelet transfusion, by the identification of new drugs and the usage of an innovative tool to predict in vitro patients' response to different treatment, allowing us to personalize therapeutic approaches.
- Conditions
- Inherited Thrombocytopenias
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification and assessment of the causative role of candidate genes for new ITs
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jun 2026
- Study start1 Sep 2020
- Primary completion31 Dec 2025
- Study completion31 Dec 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited ThrombocytopeniasStudies of the same condition, open and under way.
- More trials run by Fondazione IRCCS Policlinico San Matteo di PaviaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 159 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Federica Melazzini, Fondazione IRCCS Policlinico San Matteo di Pavia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07674381
- Sponsor's protocol ID
- P_52405_2019
- Status last verified
- Apr 2026
- First submitted
- 23 Jun 2026
- Last updated
- 29 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Inherited Thrombocytopenias: Discovering the "New" Forms That Affect Half of Patients and Developing an in Vitro Tool for Testing the Ability of New Drugs to Increase Platelet Production and Predicting the Response to Treatment in the Individual Patient
- ClinicalTrials.gov ID
- NCT07674381
- Acronym / sponsor ID
- P_52405_2019
- Conditions
- Inherited Thrombocytopenias
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 159 participants (actual)
- Lead sponsor
- Fondazione IRCCS Policlinico San Matteo di PaviaUniversity, hospital or other
- Study start
- 1 Sep 2020 (actual)
- Primary completion
- 31 Dec 2025 (actual)
- Study completion
- 31 Dec 2025 (actual)
- First posted
- 29 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Inherited thrombocytopenias (ITs) are rare conditions characterized by low platelet count resulting in impaired hemostasis.
Recent advances revealed that several forms expose patients to the risk of developing additional and life-threatening disorders. Making a definite diagnosis is essential to identify patients' prognosis, personalize follow-up and treatment. Furthermore, Eltrombopag, an oral drug mimicking thrombopoietin (THPO), was able to increase the number of platelets in most of the few patients treated so far. Despite these advances, knowledge on ITs is still unsatisfactory, in that nearly half of patients have yet unknown forms. Moreover, the individual patient's response to Eltrombopag can't be predicted. This project wants to improve knowledge on ITs by two approaches: identification and characterization of new ITs; an in vitro bone marrow model not only for pre-clinical pharmacological studies of innovative drugs, but also for predicting individual response to treatment.
Detailed description
The major problems when dealing with Inherited thrombocytopenias (ITs) are:
- achieving a diagnosis of certainty;
- setting up a personalized and effective treatment.
- Near 50% of subjects remain without a diagnosis because they don't fit the diagnostic criteria for any known IT and don't have mutations in the causative genes identified so far. Our project, aimed at identifying new ITs by whole exome sequencing(WES) of a large number of subjects with unknow forms, will fill this gap; b)We want to improve therapy for ITs, which is presently mainly based on platelet transfusion, by the identification of new drugs and the usage of an innovative tool to predict in vitro patients' response to different treatment, allowing us to personalize therapeutic approaches.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (3 listed)
- Exclusion of any known IT after the application of a validated diagnostic algorithm based on clinical and laboratory criteria;
- Absence of mutations in genes known to be causative for IT;
- Acquisition of written informed consent.
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification and assessment of the causative role of candidate genes for new ITs
Time frame: 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jun 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Thrombocytopenias, run by Fondazione IRCCS Policlinico San Matteo di Pavia at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification and assessment of the causative role of candidate genes for new ITs (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jun 2026.