Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 2:02 AM
Ignite Modification Date:
2025-12-25 @ 2:02 AM
NCT ID:
NCT06261060
Brief 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
Study:
NCT06261060
Study Brief:
Protocol Section:
NCT06261060