TY - JOUR T1 - Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. JF - Blood Y1 - 2010 A1 - Pecci, Alessandro A1 - Gresele, Paolo A1 - Klersy, Catherine A1 - Savoia, Anna A1 - Noris, Patrizia A1 - Fierro, Tiziana A1 - Bozzi, Valeria A1 - Mezzasoma, Anna Maria A1 - Melazzini, Federica A1 - Balduini, Carlo L KW - Administration, Oral KW - Adolescent KW - Adult KW - Benzoates KW - Dose-Response Relationship, Drug KW - Female KW - Genetic Predisposition to Disease KW - Humans KW - Hydrazines KW - Male KW - Molecular Motor Proteins KW - Mutation KW - Myosin Heavy Chains KW - Platelet Aggregation KW - Platelet Count KW - Pyrazoles KW - Receptors, Thrombopoietin KW - Survival Rate KW - Thrombocytopenia KW - Treatment Outcome KW - Young Adult AB -

Platelet transfusion is currently the primary medical treatment for reducing thrombocytopenia in patients with inherited thrombocytopenias. To evaluate whether stimulating megakaryopoiesis could increase platelet count in these conditions, we treated patients with a severe thrombocytopenia induced by MYH9 mutations (MYH9-related disease) with a nonpeptide thrombopoietin receptor agonist, eltrombopag. Twelve adult patients with MYH9-RD and platelet counts of less than 50 × 10(9)/L received 50 mg of eltrombopag orally per day for 3 weeks. Patients who achieved a platelet count higher than 150 × 10(9)/L stopped therapy, those with 100 to 150 platelets × 10(9)/L continued treatment at the same eltrombopag dose for 3 additional weeks, while those with less than 100 platelets × 10(9)/L increased the eltrombopag dose to 75 mg for 3 weeks. Major responses (platelet count of at least 100 × 10(9)/L or 3 times the baseline value) were obtained in 8 patients, minor responses (platelet counts at least twice the baseline value) in 3. One patient did not respond. Bleeding tendency disappeared in 8 of 10 patients with bleeding symptoms at baseline. Mild adverse events were reported in 2 patients. The availability of thrombopoietin mimetics opened new prospects in the treatment of inherited thrombocytopenias. This study is registered at www.clinicaltrials.gov as NCT01133860 (European Union Drug Regulating Authorities Clinical Trials number 2008-001903-42).

VL - 116 IS - 26 U1 - http://www.ncbi.nlm.nih.gov/pubmed/20844233?dopt=Abstract ER -