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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01507441
Recruitment Status : Completed
First Posted : January 10, 2012
Last Update Posted : May 18, 2016
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group

Brief Summary:

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 or disease Intervention/treatment
Leukemia Genetic: gene mapping Genetic: microarray analysis Genetic: mutation analysis Genetic: nucleic acid sequencing Other: laboratory biomarker analysis

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.

Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Whole Exon Sequencing of Down Syndrome Acute Myeloid Leukemia
Study Start Date : February 2012
Actual Primary Completion Date : May 2016

Primary Outcome Measures :
  1. Identification of unique mutations through whole-genome sequencing

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 3 Years   (Child)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

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 identifier (NCT number): NCT01507441

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

Responsible Party: Children's Oncology Group Identifier: NCT01507441     History of Changes
Other Study ID Numbers: AAML12B4
COG-AAML12B4 ( Other Identifier: Children's Oncology Group )
AAML12B4 ( Other Identifier: Children's Oncology Group )
NCI-2012-00108 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
First Posted: January 10, 2012    Key Record Dates
Last Update Posted: May 18, 2016
Last Verified: May 2016

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
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn