Protocol Title: Safety and Feasibility of Autologous CD34+ Hematopoietic Stem Cells Mobilization and Apheresis in Participants With RUNX1 Familial Platelet Disorder
Trial Parameters
Brief Summary
To evaluate the safety and feasibility of collecting hematopoietic stem cells (HSC) in participants with RUNX1-FPD.
Eligibility Criteria
Inclusion Criteria: Participants who meet all of the following criteria are eligible to be included in the study: 1. Are aged ≥ 18 to 75 years a. Once a favorable review of safety has been completed by the SMC in 3 participants aged ≥ 18 years, the study will be opened to participants aged ≥ 12 years. 2. Are willing and able to provide informed consent, as appropriate (either directly or through a legally authorized representative \[LAR\]), as described in Appendix 1, Section 13.1 3. Have a confirmed diagnosis of RUNX1 FPD, verified by a Clinical Laboratory Improvement Amendments (CLIA)-certified genetic sequencing report. 4. Clearance by apheresis team to proceed 5. Have systolic blood pressure ≤ 170 mm Hg and diastolic blood pressure ≤ 95 mmHg 6. Are eligible for HSCT per institution requirements 7. Have a Lansky (age \< 16 years)/Karnofsky performance status of ≥ 70 (see Appendix 2, Section 13.2). 8. Are willing and able to comply with protocol-defined contraceptive requirements (se