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.
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A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Identification and assessment of the causative role of candidate genes for new ITs
Timeframe: 3 years