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New treatment option for Inherited Bone Marrow Failure Syndrome
Official title Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
ClinicalTrials.gov ID: NCT06090669
What this study is testing
What is imatinib?
imatinib is an investigational medicine, given as an once-daily pill taken by mouth, being studied as a potential treatment for inherited bone marrow failure syndrome.
Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood, bone marrow, and lymph nodes.
- Phase 1: an early, usually small safety study
- Which group you join is decided by chance.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 18 to 120. Healthy volunteers may be eligible.
You may be able to join if
- - AFFECTED PARTICIPANTS ONLY
- Affected participants must have a confirmed pathogenic or likely pathogenic germline RUNX1 variant by history. ClinGen expert variant curation panel...
- Affected participants must have a history of clinically significant bleeding as defined by history of abnormal ISTH-BAT score, use of anti-bleeding...
- Bone marrow morphology, flow cytometry and cytogenetics confirmed by the NIH Department of Laboratory Medicine (DLM) at least within 12 months of...
- TSO500 performed by NCI Lab of Pathology within 12 months of initiating imatinib.
You likely can't join if
- ALL PARTICIPANTS
- Participants who are receiving any other investigational agents.
- Participants who received prior hematologic malignancy directed therapy
- Participants receiving medication that would affect platelet number or function (e.g., aspirin and anti-platelet medications
- Participants without access to medical care at home.
- Pregnancy (confirmed with beta-HCG serum or urine pregnancy test performed in females of childbearing potential at screening). EXCLUSION CRITERIA-...
See the full eligibility criteria
Who can join
- - AFFECTED PARTICIPANTS ONLY
- Affected participants must have a confirmed pathogenic or likely pathogenic germline RUNX1 variant by history. ClinGen expert variant curation panel criteria for pathogenicity will be utilized.
- Affected participants must have a history of clinically significant bleeding as defined by history of abnormal ISTH-BAT score, use of anti-bleeding medications (e.g., amicar), history of platelet transfusion, abnormal...
- Bone marrow morphology, flow cytometry and cytogenetics confirmed by the NIH Department of Laboratory Medicine (DLM) at least within 12 months of initiating imatinib.
- TSO500 performed by NCI Lab of Pathology within 12 months of initiating imatinib.
- Substantial GI malabsorption is not suspected.
- Participants with human immunodeficiency virus (HIV) on effective anti-retroviral therapy with undetectable viral load within 6 months are eligible for this trial if their HAART medications do not interact with imatinib.
- Participants with evidence of chronic hepatitis B virus (HBV) infection, on suppressive therapy with undetectable HBV viral load are eligible for this trial. Suppressive therapy medication may not interact with imatinib.
- Participants with a distant history of hepatitis C virus (HCV) infection must have been treated and cured. Participants with active HCV infection who are currently on treatment, with undetectable HCV viral load are...
- UNAFFECTED PARTICIPANTS ONLY
- Unaffected family members or healthy volunteers without RUNX1 mutation by pedigree or molecular testing Only participants who are related to the proband need to provide a molecular test.
- The last dosage of any platelet inhibiting medications was at least 2 weeks prior to enrollment and research sample acquisition.
- ALL PARTICIPANTS
- Age \>=18 years.
- ECOG performance status \ =60%).
- Participants must have adequate organ and marrow function as defined below:
- leukocytes \>= 3,000/mcL
- absolute neutrophil count \>= 1,500/mcL
- platelets \>= 50,000/mcL (without transfusion support)
- total bilirubin within normal institutional limits or \<= 3 X the institutional upper limit of normal for participants with Gilbert s syndrome
- AST(SGOT)/ALT(SGPT) \<= 2.5 X institutional upper limit of normal
- creatinine within normal institutional limits OR creatinine clearance \>= 60 mL/min/1.73 m\^2 for participants with creatinine levels above institutional normal.
- NIDDK CKD-EPI equation GFR = 141 x min (Scr /kappa, 1)\^alpha x max(Scr /kappa, 1)\^-1.209 x 0.993\^Age x 1.018 [if female] x 1.159 [if black] where: Scr is serum creatinine in mg/dL, kappa is 0.7 for females and 0.9...
- Note: GFR is expressed in mL/min per 1.73 m\^2, Scr is serum creatinine expressed in mg/dL, age is expressed in years, kappa is 0.7 for females and 0.9 for males, alpha is -0.329 for females and -0.411 for males, min...
- Women of child-bearing potential and men must agree to use effective contraception (hormonal or barrier method of birth control; abstinence) prior to study entry and for 30 days after the last administration of study...
- Breastfeeding participants must be willing to discontinue breastfeeding from study treatment initiation through 30 days after the last administration of study drug
- Ability of participant to understand and the willingness to sign a written informed consent document.
What rules you out
- ALL PARTICIPANTS
- Participants who are receiving any other investigational agents.
- Participants who received prior hematologic malignancy directed therapy
- Participants receiving medication that would affect platelet number or function (e.g., aspirin and anti-platelet medications
- Participants without access to medical care at home.
- Pregnancy (confirmed with beta-HCG serum or urine pregnancy test performed in females of childbearing potential at screening). EXCLUSION CRITERIA- AFFECTED PARTICIPANTS ONLY
- Participants with the following pathogenic/likely pathogenic abl mutations on baseline Illumina TSO500 testing of any detectable VAF within 12 months of receiving the first dose of imatinib --Abl mutations resistant to...
- History of allergic reactions attributed to compounds of similar chemical or biologic composition to imatinib or other agents used in study.
- Concomitant medications that include the following: --Participants requiring medications which are inhibitors or inducers of CYP3A4 metabolism, as these may change imatinib plasma levels.
- Uncontrolled intercurrent illness evaluated by history, physical exam, and chemistries or situations that would limit compliance with study requirements, interpretation of results or that could increase risk to the...
- Participants with the following cardiac conditions: symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia.
The study team makes the final eligibility decision.
Where it's taking place
- Bethesda, Maryland, United States
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 18 years to 120 years. Healthy volunteers may be eligible. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Bethesda, Maryland, United States. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.