Can hidden blood mutations ignite heart disease?
NCT ID NCT07780552
First seen Aug 21, 2026 · Last updated Aug 21, 2026
Summary
This study investigates clonal hematopoiesis, an age-related condition where blood stem cells acquire mutations, and how it triggers inflammation linked to heart disease. Researchers will compare immune cells from healthy people, those with high-risk mutations, and patients with related blood or heart conditions. Using advanced single-cell techniques, they aim to uncover shared inflammatory pathways and identify potential targets for future therapies.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- This research could reveal why some people with age-related blood mutations face higher heart disease risk, potentially pointing toward new ways to prevent or treat cardiovascular problems.
- What could go wrong
- This is an observational study, so it cannot prove cause and effect. Findings may not translate into treatments, and the results might not apply to everyone.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 120 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Oct 2026
An estimate. Start dates often move.
- Expected to finish
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Mar 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Adults aged ≥60 years will be recruited across six predefined cohorts representing the continuum from healthy aging to clonal hematopoiesis-associated hematologic and cardiovascular disease. The study population includes healthy controls, individuals with low-risk and intermediate/high-risk clonal hematopoiesis, patients with clonal cytopenia of undetermined significance (CCUS), patients with low-risk myelodysplastic syndrome (MDS), and patients with recent ST-segment elevation myocardial infarction (STEMI).
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: Participants must be ≥18 years of age and meet at least one of the following criteria: * Written informed consent has been obtained for participation in the study "Deconvolution of Clonal Hematopoiesis-Associated Inflammation in Health and Disease"; OR * Participant is enrolled in the Inn.Health study and has provided written informed consent; OR * Participant is enrolled in the study "Clonal Hematopoiesis of Indeterminate Potential and Infarct Severity in ST-Elevation Myocardial Infarction" and has provided written informed consent. Group A: Control Group (n=20) * Age ≥60 years * No detectable somatic variant identified by peripheral blood next-generation sequencing (NGS) * No history of stroke or myocardial infarction * No surgery within the previous 3 months * No diagnosis of a WHO-defined neoplasm * No cytopenia at study enrollment Group B: Low-Risk Clonal Hematopoiesis Risk Score (CHRS) Group (n=20) * Age ≥60 years * Somatic variant in DNMT3A, TET2, ASXL1, or JAK2 with variant allele frequency (VAF) ≥2% in peripheral blood * No history of stroke or myocardial infarction * No surgery within the previous 3 months * No diagnosis of a WHO-defined neoplasm * No cytopenia at study enrollment * Low-risk CHRS (\<9.5 points) Group C: Intermediate-/High-Risk CHRS Group (n=20) * Age ≥60 years * Somatic variant in DNMT3A, TET2, ASXL1, or JAK2 with VAF ≥2% in peripheral blood * No history of stroke or myocardial infarction * No surgery within the previous 3 months * No diagnosis of a WHO-defined neoplasm * No cytopenia at study enrollment * Intermediate- or high-risk CHRS (\>9.5 points) Group D: Clonal Cytopenia of Undetermined Significance (CCUS) Group (n=20) * Age ≥60 years * Somatic variant in DNMT3A, TET2, ASXL1, or JAK2 with VAF ≥2% in peripheral blood * No history of stroke or myocardial infarction * No surgery within the previous 3 months * No diagnosis of a WHO-defined neoplasm * Untreated, unexplained cytopenia present for ≥4 months * Hemoglobin \<13 g/dL (men) or \<12 g/dL (women), and/or absolute neutrophil count \<1.8 × 10⁹/L, and/or platelet count \<150 × 10⁹/L * No diagnostic criteria for a defined myeloid neoplasm based on bone marrow examination Group E: Cardiovascular Disease Group (n=20) * Age ≥60 years * Somatic variant in DNMT3A, TET2, ASXL1, or JAK2 with VAF ≥2% in peripheral blood * ST-segment elevation myocardial infarction (STEMI) treated with percutaneous coronary intervention (PCI) within the previous 4 months * No history of coronary artery bypass grafting (CABG) * No history of stroke * No cytopenia at study enrollment * No diagnosis of a WHO-defined neoplasm Group F: Low-Risk Myelodysplastic Syndrome (MDS) Group (n=20) * Age ≥60 years * Untreated, newly diagnosed (\<3 months from diagnosis) low-risk myelodysplastic syndrome according to the Revised International Prognostic Scoring System (IPSS-R score \>1.5 to 3.0) * No history of stroke or myocardial infarction Exclusion Criteria: * Treatment with immunosuppressive medication within the previous 4 weeks, including but not limited to systemic corticosteroids, methotrexate, other disease-modifying antirheumatic drugs (DMARDs), colchicine, TNF-α inhibitors, mTOR inhibitors, calcineurin inhibitors, or immunomodulatory antibodies * History of rheumatologic, autoinflammatory, or autoimmune disease
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Medical University Innsbruck
Innsbruck, Tyrol, 6020, Austria
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