An observational study in Clonal Hematopoiesis, CCUS Clonal Cytopenia of Undetermined Significance and Hematologic Disease and Disorders, sponsored by Clinical Hub for Interventional Research (CHOIR). Recruiting at 1 site in Australia. Open to participants aged 55 Years and older. Per ClinicalTrials.gov, last updated 2026-05-13.
Sponsored by Clinical Hub for Interventional Research (CHOIR) · Observational
People identified to have CH or thought to have possible CH due to unexplained low blood cell counts, including low red blood cells, white blood cells, or platelets will be asked to take part in the study.
Individuals who are confirmed to have CH and provide informed consent to participate in the study will have monitoring of their CH, assessment of the risk of heart diseases, blood cancers and personalised support. The researchers will also measure people's understanding of CH and how they feel after learning about CH.
Researchers will then record the relevant information from people with CH in a central database over time to track long-term health outcomes.
The information collected from the study will help create a blueprint for doctors to provide care for people with CH in the future, and guide further research into CH in Australia.
Participants will be asked to donate blood samples for the study for research purposes including CH monitoring and testing and also provide health information for the central database.
Clonal Haematopoiesis (CH) refers to the clonal outgrowth of a population of hematopoietic stem cells in the absence of haematologic neoplasms. The clonal cells share an acquired 'driver' mutation., and the presence of dysplasia and/or cytopenia.
CH is common in older populations, with a frequency of 10-30% in people above 70 years of age.
Most individuals with CH are asymptomatic; however, the condition increases the risk of multiple life-limiting complications, including myeloid neoplasms (MN), cardiovascular disease (CVD), cerebrovascular disease (CeVD) by 11.1, 1.4, and 2-fold, respectively. While CH is not yet treatable, identifying the condition may assist individuals in making informed decisions, including an individualised management plan for early detection of CH-associated complications. CH screening is not currently performed in routine clinical practice.
The optimal approach to surveillance for myeloid neoplasms in individuals with CH remains undefined. Some individuals undergo active surveillance with regular blood count monitoring to detect early progression to MN. Early detection of MN may also broaden the therapeutic window for individuals. Additionally, this allows individuals to connect with suitable clinical trials.
CVD is the most common CH-associated complication; hence CV (cardiovascular) risk modification is important both from an individual and public health standpoint.
CH screening may also refine the evaluation of individuals with unexplained cytopenia, as they may have underlying CH that has not been identified.
Given the uncertainties surrounding the identification and management, dedicated research clinics have been developed in the United States to evaluate the impact of screening of CH. These clinics provide a supportive environment to discuss the condition and engage multidisciplinary management. In addition to haematologists, individuals are supported by other specialities and allied health professionals. However, dedicated CH clinics are not yet available in Australia.
There is an urgent need for more research into CH as there are crucial knowledge gaps. This includes the role of CH screening and interventions to modify the biology and risks of CH-associated complications. Given the widespread use of next-generation sequencing (NGS) panels in Australia, it is likely that CH will be increasingly identified in routine clinical practice, creating a pool of individuals who may benefit from counselling and follow-up in a dedicated service.
This cohort study will establish a screening clinic and a prospectively characterised registry of individuals with CH to serve as the basis for clinical and translational studies in CH.
With consent, individuals with possible CH will undergo screening by molecular testing in the first dedicated multidisciplinary CH clinic in Australia whereby the health outcomes of participants with CH can be evaluated.
609 studies on the registry are indexed under Hematologic Diseases; 108 are open to participants now.
This study's planned enrollment of 100 is below the median of 250 across 127 observational studies indexed under Hematologic Diseases.
Browse Hematologic Diseases studies →Clinical Hub for Interventional Research (CHOIR) is the lead sponsor of 4 studies on the registry; 4 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Individuals aged 55 years and over with confirmed CH (Group 1), and possible CH (Group 2) who meet the defined eligibility criteria. Around 100 participants will be recruited to the study.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Confirmed CH or possible CH, with possible CH defined by:
a. Persistent, non-severe cytopenia, characterised by one or more of the following, present on at least 2 occasions, at least 4 months apart (WHO criteria): i. (ANC) \< 1.8 x 109/L ii. (Hb) \< 120 g/L in females, \< 130 g/L in males iii. count \< 150 x 109/L
Exclusion Criteria:
Severe cytopenia as defined by one or more of the following:
Multilineage cytopenias:
a. Marked trilineage cytopenia with all the following present: i. ANC \< 1.0 x 109/L AND ii. Hb \< 110 g/L AND iii. Platelet count \< 100 x 109/L
b. Marked bilineage cytopenia, with two or more of the following present: i. ANC \< 1.0 x 109/L ii. Hb \< 110 g/L iii. Platelet count \< 100 x 109/L
Note: People with possible CH, with the above characteristics will be excluded from referral to the CH clinic and will instead have urgent investigation as an inpatient or in the haematology clinic. However, if no definite cause for cytopenia is identified, including CH, then individuals may be referred for CH screening at the CH clinic the discretion of the study PI
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Absolute neutrophil count (ANC)
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Establishment of CH participant registry and characterisation of CH outcomes
Time frame: Through study completion, 5 years
Number and proportion of participants with CH in a population at risk
Time frame: Through study completion, 5 years
Incidence of CH-associated complications
The incidence of CH-associated complications will be measured by: A) The number and proportion of participants with CH-associated complications (i.e., MN, CVD, CeVD, thrombosis) B) The number and proportion of participants with high CVD risk, as assessed using AusCVDRisk, and modification in individuals with CH C) The number of CV risk factors in participants with CH
Time frame: First Visit (Week 0), Second Visit (Week 6) and Follow Up Visits (Weeks 52, 104, 156, 208 and 260)
Number and proportion of participants with CH with good perception and quality of life
Individual's perception and understanding of CH changes over time will be measured and assessed using the Brief Illness Perception Questionnaire (B-IPQ)
Time frame: At Screening, Second Visit (Week 6) and Follow Up Visits (Weeks 52, 104, 156, 208 and 260)
Number and proportion of participants with CH with good understanding of the condition
How an individuals' perception and understanding of CH changes over time will be measured using a custom CH survey
Time frame: Screening, Second Visit (Week 6) and Follow Up Visits (Week 52, 104, 156, 208 and 260)
Number and proportion of participants with CH experiencing psychological distress
The prevalence of psychological distress in individuals with CH will be measured using the Kessler Psychological Distress Scale (K6)
Time frame: Screening, Second Visit (Week 6), Follow Up Visits (Week 52, 104, 156, 208, and 260)
Change in VAF in individuals with CH at different timepoints
The changes in the VAF (Variant Allele Fraction) in individuals with CH over time will be measured biennially (every 2 years) in all individuals. DNA extracted from the peripheral blood will be sequenced after NGS library preparation and target-enrichment with a custom capture panel (Agilent Sure Select). Next Generation Sequencing (NGS) will be performed and the number of variant reads at a given position will be used to calculate the VAF. VAF will be a direct measure of the fraction of cells carrying the variant in the sample used for DNA extraction. High Risk - CH participants will have additional VAF testing at Week 104 and Week 208 only if indicated i.e. worsening cytopenia, concerning blood film features or development of CH-associated complication.
Time frame: Screening, Follow Up Visits (Week 52, 104, 156, 208 and 260)
Morphological changes by morphological feature analysis of CH changes
CH associated morphology changes on peripheral blood film appearance will be measured and analyzed using a computational method that detects and characterizes white and red blood cell features to identify CH-associated morphology features using deep learning approaches. Images of stained and unstained peripheral blood films, and associated data reports, will be collected from each participant for analysis.
Time frame: First Visit (Week 0), Follow Up Visits (Week 52, 104, 156, 208 and 260)
Started Mar 2026 (actual). Primary completion is estimated for Nov 2033, 92 months after the start.
Of 47 non-industry observational studies under Hematologic Diseases, half reached primary completion within 45 months of starting (the median), counting those still running; a quarter within 13 and three quarters within 190. This study's planned 92 months is above that.
Counting every sponsor, half of 64 studies reached it within 51 months; a quarter within 16 and three quarters within 78.
How these figures are worked out, and which studies are left out of them.
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Clinical Hub for Interventional Research (CHOIR)