Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder
To learn about the safety and effects of low-dose sirolimus in participants with RUNX1-FPD.
• 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 Disease (MDRD) calculation, \>30 mL/min/1.73m2
• Adequate hepatic function: aspartate aminotransferase (AST) and alanine aminotransferase (ALT) \<3 × upper limit of normal (ULN) and total bilirubin \<1.5 × ULN
• Adequate cardiac function: left ventricular ejection fraction \>50%