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Studying DNA in Samples From Younger Patients With Down Syndrome and Acute Myeloid Leukemia Treated on COG-AAML0431 Clinical Trial

This study has been completed.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: January 6, 2012
Last updated: May 17, 2016
Last verified: May 2016

RATIONALE: Studying samples of blood, tissue, and bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.

PURPOSE: This research trial studies DNA samples from patients with Down syndrome and acute myeloid leukemia treated on COG-AAML0431 clinical trial.

Condition Intervention
Genetic: gene mapping
Genetic: microarray analysis
Genetic: mutation analysis
Genetic: nucleic acid sequencing
Other: laboratory biomarker analysis

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Whole Exon Sequencing of Down Syndrome Acute Myeloid Leukemia

Resource links provided by NLM:

Further study details as provided by Children's Oncology Group:

Primary Outcome Measures:
  • Identification of unique mutations through whole-genome sequencing [ Designated as safety issue: No ]

Estimated Enrollment: 10
Study Start Date: February 2012
Primary Completion Date: May 2016 (Final data collection date for primary outcome measure)
Detailed Description:


  • To identify new genetic abnormalities associated with acute myeloid leukemia (AML) in patients with Down syndrome through whole-genome sequencing.

OUTLINE: This is a multicenter study.

Extracted DNA and RNA from cryopreserved specimens are analyzed for genomic sequencing, gene mutation, and microarray analysis.


Ages Eligible for Study:   up to 3 Years   (Child)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Down syndrome children diagnosed with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS).


  • Down syndrome children diagnosed with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS)
  • Clinical samples from patients enrolled on the Children's Oncology Group (COG) AAML0431 phase III clinical trial, and from the Children's Hospital of Michigan Cell Bank

    • Diagnostic blast samples and matched remission samples


  • Not specified


  • Not specified
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01507441

Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
Principal Investigator: Jeffrey Taub, MD Children's Hospital of Michigan
  More Information

Responsible Party: Children's Oncology Group Identifier: NCT01507441     History of Changes
Other Study ID Numbers: AAML12B4  COG-AAML12B4  AAML12B4  NCI-2012-00108 
Study First Received: January 6, 2012
Last Updated: May 17, 2016
Health Authority: United States: Federal Government

Keywords provided by Children's Oncology Group:
childhood myelodysplastic syndromes
childhood acute myeloid leukemia/other myeloid malignancies
childhood acute megakaryocytic leukemia (M7)

Additional relevant MeSH terms:
Leukemia, Myeloid
Leukemia, Myeloid, Acute
Down Syndrome
Neoplasms by Histologic Type
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn processed this record on October 21, 2016