An observational study in Myeloid Proliferations Associated With Down Syndrome, sponsored by Children's Oncology Group. Completed at 189 sites in 4 countries. Open to participants aged Up to 90 Days. Per ClinicalTrials.gov, last updated 2023-10-03.
Sponsored by Children's Oncology Group · Observational
This research study is looking at blood samples from newborns with Down syndrome. Studying the genes expressed in samples of blood from patients with Down syndrome may help doctors identify biomarkers related to cancer.
PRIMARY OBJECTIVES:
I. To further our biological understanding of the natural history of transient myeloproliferative disorder (TMD) and its relationship to subsequent leukemia by facilitating the development of a TMD cell and protein bank, and repository of DNA/RNA from megakaryoblasts for future biological studies.
II. To investigate the biology of TMD molecular changes associated with resolution of TMD or its conversion to acute myeloid leukemia within each mortality-risk group by conducting GATA1 mutational analyses, hematopoiesis clonality studies, assessment of RAS mutations, and genomic instability studies using glycophorin A assays.
III. To determine if high-resolution microarray genomic analysis of TMD blasts (using Affymetrix SNP Genechip technology to assess gene expression, copy number variation, and loss of heterozygosity) can predict the development of subsequent leukemia.
IV. To determine the relationship of minimal residual disease (monitored by peripheral blood flow cytometry and GATA1 mutational studies) to clinical remission status and development of subsequent leukemia within each mortality-risk group of TMD patients.
V. To evaluate the relationship between karyotype (including FISH analysis) and subsequent leukemia in TMD patients.
VI. To examine pharmacogenetics and in vitro drug sensitivity to cytarabine (MTT assay) in blasts from TMD patients.
VII. To examine the relationship of functional polymorphisms in Phase I and Phase II drug detoxification genes, DNA repair, and DNA synthesis pathways that may modify susceptibility to leukemia and outcome in TMD patients.
VIII. To determine the relationship between fibrosis-associated serum factors (e.g., platelet-derived growth factor, transforming growth factor beta, N-terminal peptide of III procollagen, type IV collagen, and hyaluronic acid) and event-free survival.
OUTLINE: This is a multicenter study.
Patients undergo peripheral blood collection periodically for biomarker analysis. Samples are analyzed for GATA1 mutations by real-time PCR, polymorphisms, cytogenetics, and K-RAS mutations, gene expression, drug sensitivity patterns, and minimal residual disease by flow cytometry.
Patients are followed up periodically for 5 years.
Children's Oncology Group is the lead sponsor of 447 studies on the registry; 35 are open to participants now.
Of its 12 completed or terminated interventional studies of FDA-regulated products, 11 (92%) have results posted.
Counted across the registry records on this site, refreshed daily.
Newborns with transient myeloproliferative disorder (TMD)
Inclusion Criteria:
Diagnosis of transient myeloproliferative disorder (TMD) at \< 90 days of age and meeting 1 of the following criteria:
A diagnosis of Down syndrome or Down syndrome mosaicism AND non-erythroid and non-lymphoid blasts (any amount) in the peripheral blood verified with a second sample
Trisomy 21-positive leukemic blasts documented by biopsy of any organ (including > 5% non-erythroid/non-lymphoid blasts documented by bone marrow aspirate or biopsy)
Patients undergo peripheral blood collection periodically for biomarker analysis. Samples are analyzed for GATA1 mutations by real-time PCR, polymorphisms, cytogenetics, and K-RAS mutations, gene expression, drug sensitivity patterns, and minimal residual disease by flow cytometry.
Other: Diagnostic Laboratory Biomarker Analysis · Other: Pharmacological Study
Correlative studies
Correlative studies
Event-free survival
Time frame: Up to 5 years
Overall survival
Time frame: Up to 5 years
Incidence of TMD-related mortality
Time frame: Up to 5 years
Incidence of subsequent leukemia for patients with resolved TMD
Time frame: Up to 5 years
Showing the first 100 of 189 sites across 4 countries.
Ran from Feb 2009 to primary completion in Dec 2011, 34 months.
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This study is completed, as verified in Oct 2023. You cannot join it, but the record below documents what was studied.
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