CHIP in Health and Disease

Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorVASCage GmbH

About this trial

Clonal hematopoiesis (CH), including clonal hematopoiesis of indeterminate potential (CHIP), is an age-associated condition characterized by the expansion of hematopoietic stem and progenitor cell clones carrying acquired somatic mutations. Although CH is associated with an increased risk of hematologic malignancies, its greater public health impact derives from its strong association with cardiovascular diseases, including coronary artery disease and stroke. Emerging evidence suggests that CH-associated mutations promote chronic inflammatory signaling in myeloid immune cells, thereby contributing to atherosclerosis and adverse cardiovascular remodeling.

This observational translational study aims to characterize the biological spectrum of clonal hematopoiesis across different stages of disease risk and manifestation. Using state-of-the-art single-cell and multi-omics approaches, the study will compare inflammatory pathways, immune cell states, and mutation-associated molecular programs among healthy individuals without CH, individuals with high-risk CH, and patients with CH-associated hematologic or cardiovascular disease. The ultimate goal is to identify shared and disease-specific mechanisms linking clonal hematopoiesis to adverse clinical outcomes and to generate insights for future preventive, anti-clonal, and anti-inflammatory therapeutic strategies.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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.

Age ≥60 years

Disqualifiers

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

Trial population

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).

Trial design

Design model

Case-control

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

120 Participants
are grouped into 6 trial groups

6

Trial groups

See each trial group below.

Group A: Group A: Healthy Controls
Group B: Group B: Low-Risk Clonal Hematopoiesis
Group C: Group C: Intermediate-/High-Risk Clonal Hematopoiesis
Group D: Group D: Clonal Cytopenia of Undetermined Significance (CCUS)
Group E: Group E: Cardiovascular Disease (Post-STEMI)
Group F: Group F: Lower-Risk Myelodysplastic Syndrome (MDS)

Trial outcomes

Primary outcomes

1

Inflammatory transcriptional profile of mutation-bearing immune cells

Single-cell gene expression differences in predefined inflammatory pathways (including NLRP3 inflammasome, interferon signaling, and cGAS-STING-related pathways) between immune cells with and without clonal hematopoiesis-associated somatic variants and across study groups.

Time frame
Baseline

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

VASCage GmbH

Lead sponsor

Medical University Innsbruck

Collaborator

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