Is NCT06090669 recruiting in Bethesda, MD?

Yes, NCT06090669 is currently recruiting participants at its Bethesda, MD location. This inherited bone marrow failure syndrome clinical trial is actively enrolling qualified participants.

Is participation in this Bethesda clinical trial free?

Yes, all study-related care is provided at no cost to qualified participants. Many studies also offer compensation for time and travel expenses.

Inherited Bone Marrow Failure Syndrome Clinical Trial in Bethesda, MD

Q: How do I join the inherited bone marrow failure syndrome clinical trial in Bethesda?

To join this clinical trial in Bethesda, complete the eligibility form on this page. A study coordinator will contact you to discuss next steps and determine if you qualify.

About This Inherited Bone Marrow Failure Syndrome Study in Bethesda

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. Objective: The purpose of the study includes determining which dose of imatinib is best for people with pathogenic or likely pathogenic RUNX1 mutations without blood cancers, and to determine whether there are any changes in platelet function and inflammatory markers. Eligibility: Adults aged 18 and older with RUNX1 mutations. Healthy people without this mutation, including family members of affected participants, are also needed. Design: Participants with the RUNX1 mutation will be screened. They will have a physical exam with blood tests. They will have a test of their heart function. They may need a new bone marrow biopsy if they haven't had one in the past year. Imatinib is a tablet taken by mouth once a day, every day, at home. Affected participants in different parts of the study will take imatinib for either 28 days or up to 84 days. They will fill out questionnaires about how they are feeling. For the first part of the study, participants will have blood tests every 2 weeks, either at home or at the NIH, while they are taking the imatinib. They will have a follow up visit, at home or at the NIH, when they are done taking imatinib on Day 28. Participants on the second part of the study will come to NIH on days 1 and days 84. They will have blood tests every 2 weeks (at home or the NIH) while they are taking imatinib. They may opt to have a bone marrow biopsy repeated after they finish their course of imatinib. Participants will have a follow-up visit (at home or the NIH) 30 days after they stop taking imatinib. Participants who do not have the RUNX1 mutation will have 1 clinic visit. They will have blood tests. They will fill out questionnaires. They may opt to have a bone marrow biopsy.

Sponsor: National Cancer Institute (NCI)

Who Can Participate

Inclusion Criteria

- 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 PFA screen, abnormal TEG, abnormal platelet aggregation or abnormal platelet electron microscopy.

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 eligible. If unknown HCV is detected upon screening- these participants will not be eligible for the study. INCLUSION CRITERIA- 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. INCLUSION CRITERIA- ALL PARTICIPANTS

Age \>=18 years.

ECOG performance status \<=2 (Karnofsky \>=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 for males, alpha is -0.329 for females and -0.411 for males, min indicates the minimum of Scr /kappa or 1, and max indicates the maximum of Scr /kappa or 1.

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 indicates the minimum of Scr /kappa or 1, and max indicates the maximum of Scr /kappa or 1. Race is self-identified.

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 drug.

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.

Exclusion Criteria

- 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 imatinib (T315I, F317L/V/C, T315A, V299L, Y253H, E255V/K, F359V/I/C)

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 participant

Participants with the following cardiac conditions: symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Bethesda?

Yes, this clinical trial (NCT06090669) has an active research site in Bethesda, MD that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Inherited Bone Marrow Failure Syndrome Treatment Options in Bethesda, MD

If you're searching for inherited bone marrow failure syndrome treatment options in Bethesda, MD, this clinical trial (NCT06090669) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Bethesda research site is actively enrolling participants for this clinical trial. You'll receive care from experienced inherited bone marrow failure syndrome specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all inherited bone marrow failure syndrome clinical trials near you to find additional studies recruiting in your area.

Inherited Bone Marrow Failure Syndrome Clinical Trial in Bethesda, MD

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