ClinicalTrials.gov record NCT07102849

Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

In-Depth Molecular Characterization in Marrow Failure Syndromes to Understand Clonal Dynamics and Expansion

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusEnrolling by invitationThe study enrols only people the study team invites, for example patients already at a particular clinic. It is not open to the public.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Age2 years old and older

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational case-control study that analyzes biospecimens and linked clinical data from people with bone marrow failure syndromes and age-matched healthy volunteers. It will use high-resolution multi-omics methods on blood and bone marrow to characterize molecular abnormalities and clonal behavior. The study plans to use specimens and data from up to 1,400 participants with bone marrow failure syndromes (aged 2+); age-matched healthy volunteers (aged 8+) are included alongside them. Findings will be compared with healthy age-matched controls and correlated with clinical and laboratory data.

What it is studying. The study aims to map molecular aberrations in bone marrow failure syndromes and to understand how clonal mutations, epigenetic changes, and proteomic differences affect blood cell production over the course of disease. Investigators will analyze hematopoietic stem and progenitor cells, immune cells, and other cell types from peripheral blood and bone marrow using multi-omics approaches, and then relate those molecular patterns to clinical presentation, laboratory measures, prior genetic testing, and outcomes.

What the researchers hope to learn. To characterize molecular and clonal changes in marrow failure syndromes; to define how clonality, epigenetics, and proteomics relate to hematopoiesis; to correlate molecular findings with clinical presentation, laboratory data, flow cytometry, and prior germline or somatic testing; and to compare results with healthy age-matched controls.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

STUDY DESCRIPTION: Bone marrow failure can result from immune mediated attack on stem cells or from inherited genetic defects such as telomere biology disorders or Fanconi anemia. Aplastic anemia (AA), a prototype of bone marrow failure syndromes (BMFS), can be acquired or inherited. Acquired BMFS have common immune mediated pathophysiology, and include AA, lower risk myelodysplastic syndrome (MDS, particularly hypoMDS), VEXAS, large granular lymphocytosis (LGL), paroxysmal nocturnal hemoglobinuria (PNH), pure red cell aplasia (PRCA), or cytopenia of undetermined origin. Clonality is frequent in patients with BMFS. Patients with acquired AA are known to have somatic mutations in phosphatidylinositol glycan class A (PIGA), BCL6 corepressor (BCOR) and HLA genes, which are all related to the immune mediated pathophysiology and good predictors of treatment and overall outcomes. Others such as ASXL1, RUNX1, and splicing factor mutations and/or chromosome 7 aneuploidy are associated with secondary myeloid neoplasms in these patients. Somatic mutations in STAT, DNMT3A and TET2 are prevalent in many other BMFS, such as LGL and VEXAS. Except for acquired AA, the clonal dynamics and trajectories, and cooccurrence of these aberrations in other BMFS are poorly understood. How these clonal events interact with epigenetic and proteomic changes are also unknown. In addition, the role of novel genetic defects in marrow failure is poorly characterized, such as mutations associated with inborn errors of immunity or complement pathways. Our aim is to elucidate this further using multi-omics, bulk/single cell DNA and RNA techniques as well as understand the epigenetics using ATAC-seq, and proteomics. The translation work will be correlated with clinical outcomes and laboratory parameters of patients with the particular BMFS cohort being investigated. OBJECTIVES: Primary Objective: To characterize the molecular aberrations in BMFS and to understand how clonality, epigenetics, and proteomics contribute to hematopoiesis over the course of disease using high resolution multi-omics characterization of hematopoietic stem and progenitor cells (HSPC), immune cells and other cellular composition in peripheral blood and bone marrow samples. Secondary Objectives:

To correlate the molecular findings with disease presentation and clinical outcomes (response to treatment, clonal evolution to secondary myeloid neoplasm, survival)
To correlate molecular findings with clinical laboratory data, cytokine, chemokine, soluble receptor levels and growth factors
To correlate findings with peripheral or marrow flow cytometry phenotyping
To correlate findings on this study with already performed germline or somatic mutational data
To compare the genomic, epigenomic and proteomic findings with healthy age matched controls

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

This study will utilize biospecimens and data with identifiers from up to 1,400 research participants with BMFS, aged 2 years and older, alongside age matched healthy volunteers aged 8 years and older.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

To correlate the molecular findings with disease presentation and clinical outcomes (response to treatment, clonal evolution to secondary myeloid neoplasm, survival)
To correlate molecular findings with clinical laboratory data, cytokine, chemokine, soluble receptor levels and growth factors
To correlate findings with peripheral or marrow flow cytometry phenotyping
To correlate findings on this study with already performed germline or somatic mutational data
To compare the genomic, epigenomic and proteomic findings with healthy age matched controls

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

The study uses existing blood and bone marrow samples and linked clinical data from prior research participants and from healthy controls. Researchers will run molecular tests including bulk and single‑cell DNA and RNA analyses, epigenetic testing (ATAC‑seq), and proteomics, and will compare results with laboratory data, flow cytometry, and clinical outcomes. The record describes use of stored biospecimens and data; it does not state whether new clinic visits, new sample collection, or additional procedures are required.

How the study is structured. An observational, case-control analysis of existing biospecimens and linked clinical data. Researchers will perform multi-omics laboratory testing (bulk and single-cell DNA/RNA, epigenetic ATAC-seq, and proteomics) on blood and bone marrow samples and compare results between people with BMFS and age-matched healthy volunteers. No investigational treatments are given as part of this study.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The registry says participants are enrolled by invitation. Who decides who is invited, and how?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on VEXAS syndrome

This trial is also listed on this site under paroxysmal nocturnal hemoglobinuria.

Clinical trials11 trials listed for VEXAS syndromeEvery trial the registry lists for VEXAS syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in VEXAS syndrome researchLatest monthly update: September 2026. Includes: IL-6 and JAK drugs. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Sep 9, 2025
Primary completion: Jul 11, 2030 (estimated)
Study completion: Jul 11, 2030 (estimated)
Target enrollment: 1400 participants (estimated)
Last updated on registry: Dec 22, 2025
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Participating sites (1)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892 · United States

Terms used on this page · explanations by MedicalUpdates.ai

cohort: A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
Primary Objective: The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
biospecimens: A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.
healthy volunteers: People who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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