NCT06261060

Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder

• Status: Recruiting
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 6 (estimated)
• Sponsor: M.D. Anderson Cancer Center · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

To learn about the safety and effects of low-dose sirolimus in participants with RUNX1-FPD.

Detailed description

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: * Measure rescue of elevated cytokine profiles * Evaluate reversal of myeloid skewing using flow cytometry * Determine changes in bone marrow (eg, megakaryocytic atypia and cellularity) * Assess changes in patient-reported outcomes measures (eg, EORTC and PRO-CTCAE) * Describe the pharmacokinetics of sirolimus in patients with RUNX1-FPD * Determine the correlation between sirolimus trough levels and each endpoint

Conditions

• Familial Platelet Disorder
• Hematopoietic

Interventions

Type	Name	Description
DRUG	Sirolimus	Given by PO

Timeline

• Start date: 2024-06-20
• Primary completion: 2026-06-11
• Completion: 2028-06-11
• First posted: 2024-02-15
• Last updated: 2026-04-15

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study