Study of Blood Samples From Newborns With Down Syndrome
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|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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
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|