Familial Platelet DisorderPhase 2NCT06261060
Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder
A Phase 2 study testing Sirolimus in people with Familial Platelet Disorder and Hematopoietic, run by M.D. Anderson Cancer Center at 1 site in United States.
Trial summary
To learn about the safety and effects of low-dose sirolimus in participants with RUNX1-FPD. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Familial Platelet Disorder, Hematopoietic
- What is being tested?
- Sirolimus
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Jun 2024to 11 Jun 2028
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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%
Who cannot join
- Known allergy to sirolimus
- History of lymphoma or other hematologic malignancies
- Uncontrolled bleeding
- Any prior diagnosis of myelodysplastic syndrome or other hematologic malignancy using International Working Group criteria
- Prior treatment with sirolimus or a rapalog, mTOR inhibitor, or B-cell-depleting therapy within 28 days before study day 1
- Treatment with strong inhibitors of cytochrome P450 3A4 (CYP3A4; eg, ketoconazole, voriconazole, itraconazole, erythromycin, telithromycin, and clarithromycin), strong inducers of CYP3A4 (eg, rifampin and rifabutin), other drugs that could increase sirolimus blood concentrations (eg, bromocriptine, cimetidine, cisapride, clotrimazole, danazol, diltiazem, fluconazole, letermovir, protease inhibitors [eg, ritonavir, indinavir, boceprevir, and telaprevir], metoclopramide, nicardipine, troleandomycin, and verapamil), other drugs that could decrease sirolimus blood concentrations (eg, carbamazepine, phenobarbital, phenytoin, rifapentine, St. John's Wort [Hypericum perforatum]), or drugs with blood concentrations that could increase (eg, verapamil) within 7 days before study day 1
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- Use of cannabidiol, which can increase blood levels of sirolimus, within 7 days before study day 1
- Myocardial infarction within 6 months before study day 1, congestive heart failure (New York Heart Association > class II)
- Total cholesterol >300 mg/dL or triglyceride >400 mg/dL
- Arterial thrombosis (eg, stroke or transient ischemic attack) within 6 months before study day 1
- Infection requiring intravenous anti-infective treatment within 1 week of study day 1
- Live vaccines (eg, measles, mumps, rubella, oral polio, BCG, yellow fever, varicella, and TY21a typhoid) within 28 days before study day 1
- Known diagnosis of chronic viral infection (eg, hepatitis B or C or HIV, and Epstein-Barr) or tuberculosis
- Women who are pregnant, may become pregnant, or who are breastfeeding
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
MD Anderson Cancer Center
Houston, Texas, 77030
Courtney DiNardo, MD, 713-794-1141, cdinardo@mdanderson.org
Courtney DiNardo, MD
About this study
To learn about the safety and effects of low-dose sirolimus in participants with RUNX1-FPD.
Read the 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
- Being tested
- Sirolimus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SirolimusDrug
Given by PO
| Study group | Role | What they receive |
|---|---|---|
| Arm 1 | Experimental | Participants will visit the study clinic 2 times during Week 1, one (1) time during Weeks 2-4, and then 1 time every 2 weeks after that (Weeks 6, 8, 10, and so on) until Week 22 (Month 6). Then participants will have a follow-up visit at Week 24 and again at Week 52 (Month 12). Participants will take sirolimus by mouth every day, at about the same time each day. Swallow the tablet(s) whole with a full glass of water (about 1 cup). Do not crush or chew the tablet(s). Participants may take sirolimus with or without food. Receives: Drug: Sirolimus |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety and adverse events (AEs)
Incidence of Adverse Events, Graded According to National Cancer Institute Common Terminology Criteria for Adverse Events (NCI CTCAE) Version (v) 5.0
Measured: Through study completion; an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Feb 2024
- Study start20 Jun 2024
- Primary completion11 Jun 2028 (estimated)
- Study completion11 Jun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Platelet DisorderStudies of the same condition, open and under way.
- More trials run by M.D. Anderson Cancer CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- M.D. Anderson Cancer Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Courtney DiNardo, MD, Principal investigator, M.D. Anderson Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06261060
- Sponsor's protocol ID
- 2023-0918
- Other IDs
- NCI-2024-01333
- Status last verified
- Sep 2026
- First submitted
- 8 Feb 2024
- Last updated
- 10 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder
- ClinicalTrials.gov ID
- NCT06261060
- Acronym / sponsor ID
- 2023-0918
- Conditions
- Familial Platelet Disorder, Hematopoietic
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- M.D. Anderson Cancer CenterUniversity, hospital or other
- Study start
- 20 Jun 2024 (actual)
- Primary completion
- 11 Jun 2028 (estimated)
- Study completion
- 11 Jun 2028 (estimated)
- First posted
- 15 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Arm 1 | Experimental | Drug: SirolimusParticipants will visit the study clinic 2 times during Week 1, one (1) time during Weeks 2-4, and then 1 time every 2 weeks after that (Weeks 6, 8, 10, and so on) until Week 22 (Month 6). Then participants will have a follow-up visit at Week 24 and again at Week 52 (Month 12). Participants will take sirolimus by mouth every day, at about the same time each day. Swallow the tablet(s) whole with a full glass of water (about 1 cup). Do not crush or chew the tablet(s). Participants may take sirolimus with or without food. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (14 listed)
- Known allergy to sirolimus
- History of lymphoma or other hematologic malignancies
- Uncontrolled bleeding
- Any prior diagnosis of myelodysplastic syndrome or other hematologic malignancy using International Working Group criteria
- Prior treatment with sirolimus or a rapalog, mTOR inhibitor, or B-cell-depleting therapy within 28 days before study day 1
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SirolimusGiven by PO | Drug | Arm 1 |
Primary outcome
Safety and adverse events (AEs)
Time frame: Through study completion; an average of 1 year
Incidence of Adverse Events, Graded According to National Cancer Institute Common Terminology Criteria for Adverse Events (NCI CTCAE) Version (v) 5.0
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Sep 2026.
- MD Anderson Cancer CenterLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Courtney DiNardo, MD principal investigator
M.D. Anderson Cancer Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Sirolimus in people with Familial Platelet Disorder and Hematopoietic, run by M.D. Anderson Cancer Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Courtney DiNardo, MD ((713) 794-1141, cdinardo@mdanderson.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety and adverse events (AEs) (time frame: Through study completion; an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Sep 2026.