M.D. Anderson Cancer Center
To learn about the safety and effects of low-dose sirolimus in participants with RUNX1-FPD.
Primary Objective: • Evaluate the safety and tolerability of low-dose sirolimus in participants with RUNX1 familial platelet disorder (RUNX1-FPD) Secondary Objectives: * Evaluate increases in platelet counts during and after treatment with low-dose sirolimus * Evaluate changes in somatic mutation variant allele frequency (VAF) * Monitor the rate of somatic mutation acquisition (ie, mutation burden) * Assess change in platelet aggregation score * Measure the change from baseline in bleeding score (ISTH-BAT) * Evaluate change in mTORC1 downstream signaling (pS6/EBP) Exploratory Objectives:…
Inclusion Criteria: * Participants has provided signed, informed consent before initiation of any study specific procedures * Aged ≥18 years at the time of signing the informed consent * Confirmed P/LP germline RUNX1 variant per ClinGen Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) RUNX1-specific variant curation rules80 * Participants must be willing to provide bone marrow sample at time of screening and at the end of treatment with sirolimus * Platelet count of ≥50,000/µL * Adequate renal function: estimated glomerular filtration rate based on Modification of Diet in Renal Dise…
Given by PO
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