Trial record 1 of 1 for:    COG AAML08B1
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Study of Blood Samples From Newborns With Down Syndrome

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2011 by National Cancer Institute (NCI).
Recruitment status was  Recruiting
Sponsor:
Collaborator:
Information provided by:
National Cancer Institute (NCI)
ClinicalTrials.gov Identifier:
NCT00959283
First received: August 13, 2009
Last updated: December 21, 2011
Last verified: December 2011
  Purpose

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 Intervention
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

Study Type: Observational
Official Title: Biology Study of Transient Myeloproliferative Disorder (TMD) in Children With Down Syndrome (DS)

Resource links provided by NLM:


Further study details as provided by National Cancer Institute (NCI):

Primary Outcome Measures:
  • Event-free survival [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Overall survival [ Designated as safety issue: No ]
  • Transient myeloproliferative disorder (TMD)-related mortality [ Designated as safety issue: No ]
  • Incidence of subsequent leukemia for patients with resolved TMD [ Designated as safety issue: No ]

Estimated Enrollment: 180
Study Start Date: February 2009
Estimated Primary Completion Date: December 2011 (Final data collection date for primary outcome measure)
Detailed Description:

OBJECTIVES:

  • 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.

  Eligibility

Ages Eligible for Study:   up to 1 Year
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

DISEASE CHARACTERISTICS:

  • 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

      • Patients with typical physical characteristics of Down syndrome are allowed before cytogenetic or FISH confirmation of the diagnosis
    • 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)

      • Infants with isolated trisomy 21 positivity identified only in the leukemic blasts are allowed
  • Institutional immunophenotype characterization is required for study enrollment

PATIENT CHARACTERISTICS:

  • Not specified

PRIOR CONCURRENT THERAPY:

  • 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 ClinicalTrials.gov identifier: NCT00959283

  Show 152 Study Locations
Sponsors and Collaborators
Children's Oncology Group
Investigators
Principal Investigator: April D. Sorrell, MD Beckman Research Institute
  More Information

Additional Information:
No publications provided

ClinicalTrials.gov Identifier: NCT00959283     History of Changes
Other Study ID Numbers: CDR0000636115, COG-AAML08B1
Study First Received: August 13, 2009
Last Updated: December 21, 2011
Health Authority: Unspecified

Keywords provided by National Cancer Institute (NCI):
acute myeloid leukemia/transient myeloproliferative disorder

Additional relevant MeSH terms:
Down Syndrome
Leukemia
Myeloproliferative Disorders
Mental Retardation
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Neoplasms by Histologic Type
Neoplasms
Bone Marrow Diseases
Hematologic Diseases

ClinicalTrials.gov processed this record on July 23, 2014