Tiny study hopes to predict blood cancer risk from genetic mutations
NCT ID NCT02804984
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aimed to find genetic mutations in people with idiopathic cytopenia of undetermined significance (ICUS), a condition of unexplained low blood cell counts. Researchers wanted to see if these mutations are similar to those found in myelodysplastic syndrome (MDS), a type of blood cancer, suggesting ICUS could be an early stage of MDS. Only 2 participants were enrolled before the study was terminated, so the findings are very limited.
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
- If successful, this research could help identify which patients with unexplained low blood counts are at risk of developing myelodysplastic syndrome (MDS), enabling earlier monitoring or intervention.
- What could go wrong
- The study was terminated early with only 2 participants, so results are very limited. It is a small, observational genetic analysis, not a treatment trial, so no direct benefit to patients is expected.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
-
2 people
The number who actually took part.
- Started
-
Jul 2015
- Finished
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Aug 2022
- Lead sponsor
-
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
patients with myelodysplastic syndrome
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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: * Age 18 or over. * Haemoglobin \<11 g/dl and/or a polynuclear neutrophil count \<1.5.109/L and/or a platelet count \<100.109/L * Full clinical biochemistry/haematological profiling: complete blood count, blood smear, reticulocyte count, iron status, folates, B12, TSH, creatinine, liver enzymes, ANAs, rheumatoid factor, anticardiolipin antibodies, Coombs test, EPO assay, serological tests for HIV, HVB and HVC. * Availability of a bone marrow differential cell count and an evaluation of myelopoiesis disorders (number of lineages, percentage of cells affected, etc.) plus Perls staining. * Availability of a cytogenetic analysis. * Voluntary provision of written, informed consent * Life expectancy \>6 months * Social security coverage Exclusion Criteria: * An obvious cause of anaemia (if isolated): iron deficiency, chronic kidney failure (clearance \<60 ml/min), regenerative anaemia (reticulocytes \>150G/L) * Vitamin B12 or B9 deficiency * Hepatomegaly, or clinical and/or ultrasound signs of portal hypertension * Clinical and/or ultrasound signs of splenomegaly * Abnormal liver enzyme levels: total bilirubin, alkaline phosphatases or transaminases \> 1.5N; gammaGT \> 2N. A history of (or diagnostic criteria during screening) auto-immune diseases such as systemic erythematous lupus, antiphospholipid syndrome or Evans syndrome. * An abnormal bone marrow differential cell count * A bone marrow karyotype revealing MDS * Medical, psychological or social conditions that prevent the participant from correctly understanding the study procedures. * Legal guardianship and incarceration.
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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.
Contacts and locations
Locations
-
CHU Amiens
Amiens, 80054, France
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