Study of Blood Samples From Newborns With Down Syndrome
|ClinicalTrials.gov Identifier: NCT00959283|
Recruitment Status : Active, not recruiting
First Posted : August 14, 2009
Last Update Posted : July 25, 2017
RATIONALE: Studying the genes expressed in samples of blood from patients with Down syndrome may help doctors identify biomarkers related to cancer.
PURPOSE: This research study is looking at blood samples from newborns with Down syndrome.
|Condition or disease||Intervention/treatment|
|Leukemia||Genetic: DNA analysis Genetic: RNA analysis Genetic: cytogenetic analysis Genetic: fluorescence in situ hybridization Genetic: gene expression analysis Genetic: microarray analysis Genetic: mutation analysis Genetic: polymerase chain reaction Genetic: polymorphism analysis Other: flow cytometry Other: laboratory biomarker analysis Other: pharmacological study|
- 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.
- 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.
- 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.
- 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.
- To evaluate the relationship between karyotype (including FISH analysis) and subsequent leukemia in TMD patients.
- To examine pharmacogenetics and in vitro drug sensitivity to cytarabine (MTT assay) in blasts from TMD patients.
- 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.
- 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.
|Study Type :||Observational|
|Estimated Enrollment :||180 participants|
|Official Title:||Biology Study of Transient Myeloproliferative Disorder (TMD) in Children With Down Syndrome (DS)|
|Study Start Date :||February 2009|
|Estimated Primary Completion Date :||January 2100|
|Estimated Study Completion Date :||January 2100|
- Event-free survival [ Time Frame: length of study ]
- Overall survival [ Time Frame: length of study ]
- Transient myeloproliferative disorder (TMD)-related mortality [ Time Frame: length of study ]
- Incidence of subsequent leukemia for patients with resolved TMD [ Time Frame: length of study ]
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00959283
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|Principal Investigator:||April D. Sorrell, MD||City of Hope Comprehensive Cancer Center|