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

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.

Study Overview

• Status: Completed
• Conditions: Inherited Thrombocytopenias

Detailed Description

The major problems when dealing with Inherited thrombocytopenias (ITs) are:

1. achieving a diagnosis of certainty;
2. setting up a personalized and effective treatment.

a) 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 Type: Observational
• Enrollment (Actual): 159

Contacts and Locations

Study Locations

• Italy
  • Pavia, Italy, 27100
    • Medicina Generale 1, Fondazione IRCCS Policlinico San Matteo

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

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.

Description

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:

-

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Identification and assessment of the causative role of candidate genes for new ITs	3 years

Collaborators and Investigators

• Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2020
• Primary Completion (Actual): December 31, 2025
• Study Completion (Actual): December 31, 2025

Study Registration Dates

• First Submitted: June 23, 2026
• First Submitted That Met QC Criteria: June 23, 2026
• First Posted (Actual): June 29, 2026

Study Record Updates

• Last Update Posted (Actual): June 29, 2026
• Last Update Submitted That Met QC Criteria: June 23, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Other Study ID Numbers: P_52405_2019

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No