Study of Blood Samples From Newborns With Down Syndrome
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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. |
ClinicalTrials.gov Identifier: NCT00959283 |
Recruitment Status
:
Active, not recruiting
First Posted
: August 14, 2009
Last Update Posted
: July 25, 2017
|
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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 |
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.
Study Type : | Observational |
Estimated Enrollment : | 180 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
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

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, Learn About Clinical Studies.
Ages Eligible for Study: | up to 1 Year (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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

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

United States, Alabama | |
UAB Comprehensive Cancer Center | |
Birmingham, Alabama, United States, 35294 | |
University of South Alabama Mitchell Cancer Institute | |
Mobile, Alabama, United States, 36604 | |
United States, Arizona | |
Phoenix Children's Hospital | |
Phoenix, Arizona, United States, 85016-7710 | |
United States, Arkansas | |
Arkansas Cancer Research Center at University of Arkansas for Medical Sciences | |
Little Rock, Arkansas, United States, 72205 | |
United States, California | |
Loma Linda University Cancer Institute at Loma Linda University Medical Center | |
Loma Linda, California, United States, 92354 | |
Jonathan Jaques Children's Cancer Center at Miller Children's Hospital | |
Long Beach, California, United States, 90801 | |
Childrens Hospital Los Angeles | |
Los Angeles, California, United States, 90027 | |
Southern California Permanente Medical Group | |
Los Angeles, California, United States, 90027 | |
Samuel Oschin Comprehensive Cancer Institute at Cedars-Sinai Medical Center | |
Los Angeles, California, United States, 90048-1865 | |
Children's Hospital Central California | |
Madera, California, United States, 93638-8762 | |
Children's Hospital and Research Center Oakland | |
Oakland, California, United States, 94609 | |
Children's Hospital of Orange County | |
Orange, California, United States, 92868 | |
Lucile Packard Children's Hospital at Stanford University Medical Center | |
Palo Alto, California, United States, 95798 | |
Sutter Cancer Center | |
Sacramento, California, United States, 95816 | |
University of California Davis Cancer Center | |
Sacramento, California, United States, 95817 | |
Rady Children's Hospital - San Diego | |
San Diego, California, United States, 92123-4282 | |
UCSF Helen Diller Family Comprehensive Cancer Center | |
San Francisco, California, United States, 94115 | |
United States, Colorado | |
Children's Hospital Colorado Center for Cancer and Blood Disorders | |
Aurora, Colorado, United States, 80045 | |
Presbyterian - St. Luke's Medical Center | |
Denver, Colorado, United States, 80218 | |
United States, Connecticut | |
Connecticut Children's Medical Center | |
Hartford, Connecticut, United States, 06106 | |
Yale Cancer Center | |
New Haven, Connecticut, United States, 06520-8028 | |
United States, Delaware | |
Alfred I. duPont Hospital for Children | |
Wilmington, Delaware, United States, 19803 | |
United States, District of Columbia | |
Lombardi Comprehensive Cancer Center at Georgetown University Medical Center | |
Washington, D.C., District of Columbia, United States, 20007 | |
United States, Florida | |
Lee Cancer Care of Lee Memorial Health System | |
Fort Myers, Florida, United States, 33901 | |
Memorial Cancer Institute at Memorial Regional Hospital | |
Hollywood, Florida, United States, 33021 | |
Nemours Children's Clinic | |
Jacksonville, Florida, United States, 32207 | |
Florida Hospital Cancer Institute at Florida Hospital Orlando | |
Orlando, Florida, United States, 32803-1273 | |
M.D. Anderson Cancer Center at Orlando | |
Orlando, Florida, United States, 32806 | |
Nemours Children's Clinic - Orlando | |
Orlando, Florida, United States, 32806 | |
Nemours Children's Clinic - Pensacola | |
Pensacola, Florida, United States, 32504 | |
All Children's Hospital | |
Saint Petersburg, Florida, United States, 33701 | |
St. Joseph's Cancer Institute at St. Joseph's Hospital | |
Tampa, Florida, United States, 33607 | |
Kaplan Cancer Center at St. Mary's Medical Center | |
West Palm Beach, Florida, United States, 33407 | |
United States, Georgia | |
AFLAC Cancer Center and Blood Disorders Service of Children's Healthcare of Atlanta - Egleston Campus | |
Atlanta, Georgia, United States, 30322 | |
Curtis and Elizabeth Anderson Cancer Institute at Memorial Health University Medical Center | |
Savannah, Georgia, United States, 31403-3089 | |
United States, Hawaii | |
Cancer Research Center of Hawaii | |
Honolulu, Hawaii, United States, 96813 | |
United States, Idaho | |
Mountain States Tumor Institute at St. Luke's Regional Medical Center | |
Boise, Idaho, United States, 83712-6297 | |
United States, Illinois | |
Children's Memorial Hospital - Chicago | |
Chicago, Illinois, United States, 60611 | |
University of Illinois Cancer Center | |
Chicago, Illinois, United States, 60612-7243 | |
University of Chicago Cancer Research Center | |
Chicago, Illinois, United States, 60637-1470 | |
Keyser Family Cancer Center at Advocate Hope Children's Hospital | |
Oak Lawn, Illinois, United States, 60453 | |
Simmons Cooper Cancer Institute | |
Springfield, Illinois, United States, 62794-9677 | |
United States, Indiana | |
Riley's Children Cancer Center at Riley Hospital for Children | |
Indianapolis, Indiana, United States, 46202 | |
St. Vincent Indianapolis Hospital | |
Indianapolis, Indiana, United States, 46260 | |
United States, Iowa | |
Blank Children's Hospital | |
Des Moines, Iowa, United States, 50309 | |
Holden Comprehensive Cancer Center at University of Iowa | |
Iowa City, Iowa, United States, 52242-1002 | |
United States, Kentucky | |
Lucille P. Markey Cancer Center at University of Kentucky | |
Lexington, Kentucky, United States, 40536-0093 | |
Kosair Children's Hospital | |
Louisville, Kentucky, United States, 40232 | |
United States, Louisiana | |
Tulane Cancer Center Office of Clinical Research | |
Alexandria, Louisiana, United States, 71315-3198 | |
Children's Hospital of New Orleans | |
New Orleans, Louisiana, United States, 70118 | |
United States, Maine | |
CancerCare of Maine at Eastern Maine Medical Center | |
Bangor, Maine, United States, 04401 | |
United States, Maryland | |
Alvin and Lois Lapidus Cancer Institute at Sinai Hospital | |
Baltimore, Maryland, United States, 21215 | |
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | |
Baltimore, Maryland, United States, 21231-2410 | |
National Naval Medical Center | |
Bethesda, Maryland, United States, 20889-5600 | |
United States, Massachusetts | |
Floating Hospital for Children at Tufts - New England Medical Center | |
Boston, Massachusetts, United States, 02111 | |
United States, Michigan | |
C.S. Mott Children's Hospital at University of Michigan Medical Center | |
Ann Arbor, Michigan, United States, 48109-0286 | |
Barbara Ann Karmanos Cancer Institute | |
Detroit, Michigan, United States, 48201-1379 | |
Hurley Medical Center | |
Flint, Michigan, United States, 48503 | |
Helen DeVos Children's Hospital at Spectrum Health | |
Grand Rapids, Michigan, United States, 49503 | |
Van Elslander Cancer Center at St. John Hospital and Medical Center | |
Grosse Pointe Woods, Michigan, United States, 48236 | |
Bronson Methodist Hospital | |
Kalamazoo, Michigan, United States, 49007-5381 | |
Breslin Cancer Center at Ingham Regional Medical Center | |
Lansing, Michigan, United States, 48910 | |
United States, Minnesota | |
Children's Hospitals and Clinics of Minnesota - Minneapolis | |
Minneapolis, Minnesota, United States, 55404 | |
Mayo Clinic Cancer Center | |
Rochester, Minnesota, United States, 55905 | |
United States, Mississippi | |
University of Mississippi Cancer Clinic | |
Jackson, Mississippi, United States, 39216-4505 | |
United States, Missouri | |
Ellis Fischel Cancer Center at University of Missouri - Columbia | |
Columbia, Missouri, United States, 65203 | |
Children's Mercy Hospital | |
Kansas City, Missouri, United States, 64108 | |
Cardinal Glennon Children's Hospital | |
Saint Louis, Missouri, United States, 63104 | |
Siteman Cancer Center at Barnes-Jewish Hospital - Saint Louis | |
Saint Louis, Missouri, United States, 63110 | |
David C. Pratt Cancer Center at St. John's Mercy | |
Saint Louis, Missouri, United States, 63141 | |
United States, Nebraska | |
Children's Hospital | |
Omaha, Nebraska, United States, 68114-4113 | |
UNMC Eppley Cancer Center at the University of Nebraska Medical Center | |
Omaha, Nebraska, United States, 68198-6805 | |
United States, Nevada | |
CCOP - Nevada Cancer Research Foundation | |
Las Vegas, Nevada, United States, 89109-2306 | |
United States, New Hampshire | |
Norris Cotton Cancer Center at Dartmouth-Hitchcock Medical Center | |
Lebanon, New Hampshire, United States, 03756-0002 | |
United States, New Jersey | |
Hackensack University Medical Center Cancer Center | |
Hackensack, New Jersey, United States, 07601 | |
St. Barnabas Medical Center Cancer Center | |
Livingston, New Jersey, United States, 07039 | |
Saint Peter's University Hospital | |
New Brunswick, New Jersey, United States, 08901 | |
Cancer Institute of New Jersey at UMDNJ - Robert Wood Johnson Medical School | |
New Brunswick, New Jersey, United States, 08903 | |
Newark Beth Israel Medical Center | |
Newark, New Jersey, United States, 07112 | |
St. Joseph's Hospital and Medical Center | |
Paterson, New Jersey, United States, 07503 | |
Carol G. Simon Cancer Center at Morristown Memorial Hospital | |
Summit, New Jersey, United States, 07901 | |
United States, New Mexico | |
University of New Mexico Cancer Center | |
Albuquerque, New Mexico, United States, 87131-5636 | |
United States, New York | |
Albany Medical Center Hospital | |
Albany, New York, United States, 12208-3419 | |
Roswell Park Cancer Institute | |
Buffalo, New York, United States, 14263-0001 | |
Winthrop University Hospital | |
Mineola, New York, United States, 11501 | |
Schneider Children's Hospital | |
New Hyde Park, New York, United States, 11040 | |
NYU Cancer Institute at New York University Medical Center | |
New York, New York, United States, 10016 | |
Herbert Irving Comprehensive Cancer Center at Columbia University Medical Center | |
New York, New York, United States, 10032 | |
James P. Wilmot Cancer Center at University of Rochester Medical Center | |
Rochester, New York, United States, 14642 | |
Stony Brook University Cancer Center | |
Stony Brook, New York, United States, 11794-9446 | |
SUNY Upstate Medical University Hospital | |
Syracuse, New York, United States, 13210 | |
Albert Einstein Cancer Center at Albert Einstein College of Medicine | |
The Bronx, New York, United States, 10461 | |
United States, North Carolina | |
Mission Hospitals - Memorial Campus | |
Asheville, North Carolina, United States, 28801 | |
Lineberger Comprehensive Cancer Center at University of North Carolina - Chapel Hill | |
Chapel Hill, North Carolina, United States, 27599-7295 | |
Blumenthal Cancer Center at Carolinas Medical Center | |
Charlotte, North Carolina, United States, 28232-2861 | |
Presbyterian Cancer Center at Presbyterian Hospital | |
Charlotte, North Carolina, United States, 28233-3549 | |
Duke Cancer Institute | |
Durham, North Carolina, United States, 27710 | |
Leo W. Jenkins Cancer Center at ECU Medical School | |
Greenville, North Carolina, United States, 27834 | |
Wake Forest University Comprehensive Cancer Center | |
Winston-Salem, North Carolina, United States, 27157-1096 | |
United States, North Dakota | |
CCOP - MeritCare Hospital | |
Fargo, North Dakota, United States, 58122 | |
United States, Ohio | |
Akron Children's Hospital | |
Akron, Ohio, United States, 44308-1062 | |
Cincinnati Children's Hospital Medical Center | |
Cincinnati, Ohio, United States, 45229-3039 | |
Rainbow Babies and Children's Hospital | |
Cleveland, Ohio, United States, 44106-5000 | |
Cleveland Clinic Taussig Cancer Center | |
Cleveland, Ohio, United States, 44195 | |
Nationwide Children's Hospital | |
Columbus, Ohio, United States, 43205-2696 | |
Dayton Children's - Dayton | |
Dayton, Ohio, United States, 45404-1815 | |
Toledo Hospital | |
Toledo, Ohio, United States, 43606 | |
Mercy Children's Hospital | |
Toledo, Ohio, United States, 43608 | |
United States, Oklahoma | |
Oklahoma University Cancer Institute | |
Oklahoma City, Oklahoma, United States, 73104 | |
Natalie Warren Bryant Cancer Center at St. Francis Hospital | |
Tulsa, Oklahoma, United States, 74136 | |
United States, Oregon | |
Legacy Emanuel Children's Hospital | |
Portland, Oregon, United States, 97227 | |
Knight Cancer Institute at Oregon Health and Science University | |
Portland, Oregon, United States, 97239-3098 | |
United States, Pennsylvania | |
Geisinger Cancer Institute at Geisinger Health | |
Danville, Pennsylvania, United States, 17822-0001 | |
Penn State Children's Hospital | |
Hershey, Pennsylvania, United States, 17033-0850 | |
Children's Hospital of Philadelphia | |
Philadelphia, Pennsylvania, United States, 19104 | |
Children's Hospital of Pittsburgh of UPMC | |
Pittsburgh, Pennsylvania, United States, 15213 | |
United States, Rhode Island | |
Rhode Island Hospital Comprehensive Cancer Center | |
Providence, Rhode Island, United States, 02903 | |
United States, South Carolina | |
Hollings Cancer Center at Medical University of South Carolina | |
Charleston, South Carolina, United States, 29425 | |
Palmetto Health South Carolina Cancer Center | |
Columbia, South Carolina, United States, 29203 | |
United States, South Dakota | |
Sanford Cancer Center at Sanford USD Medical Center | |
Sioux Falls, South Dakota, United States, 57117-5039 | |
United States, Tennessee | |
T.C. Thompson Children's Hospital | |
Chattanooga, Tennessee, United States, 37403 | |
East Tennessee Children's Hospital | |
Knoxville, Tennessee, United States, 37916 | |
St. Jude Children's Research Hospital | |
Memphis, Tennessee, United States, 38105 | |
Vanderbilt-Ingram Cancer Center | |
Nashville, Tennessee, United States, 37232-6838 | |
United States, Texas | |
Texas Tech University Health Sciences Center School of Medicine - Amarillo | |
Amarillo, Texas, United States, 79106 | |
Driscoll Children's Hospital | |
Corpus Christi, Texas, United States, 78411 | |
Medical City Dallas Hospital | |
Dallas, Texas, United States, 75230 | |
Simmons Comprehensive Cancer Center at University of Texas Southwestern Medical Center - Dallas | |
Dallas, Texas, United States, 75390 | |
Brooke Army Medical Center | |
Fort Sam Houston, Texas, United States, 78234-6200 | |
Cook Children's Medical Center - Fort Worth | |
Fort Worth, Texas, United States, 76104 | |
Baylor University Medical Center - Houston | |
Houston, Texas, United States, 77030-2399 | |
University of Texas Health Science Center at San Antonio | |
San Antonio, Texas, United States, 78207 | |
United States, Utah | |
Primary Children's Medical Center | |
Salt Lake City, Utah, United States, 84113-1100 | |
United States, Vermont | |
Fletcher Allen Health Care - University Health Center Campus | |
Burlington, Vermont, United States, 05401 | |
United States, Virginia | |
University of Virginia Cancer Center | |
Charlottesville, Virginia, United States, 22908 | |
Inova Fairfax Hospital | |
Falls Church, Virginia, United States, 22042-3300 | |
Children's Hospital of The King's Daughters | |
Norfolk, Virginia, United States, 23507-1971 | |
Carilion Medical Center for Children at Roanoke Community Hospital | |
Roanoke, Virginia, United States, 24014 | |
United States, Washington | |
Children's Hospital and Regional Medical Center - Seattle | |
Seattle, Washington, United States, 98105 | |
Providence Cancer Center at Sacred Heart Medical Center | |
Spokane, Washington, United States, 99220-2555 | |
Mary Bridge Children's Hospital and Health Center - Tacoma | |
Tacoma, Washington, United States, 98405 | |
United States, West Virginia | |
West Virginia University Health Sciences Center - Charleston | |
Charleston, West Virginia, United States, 25302 | |
United States, Wisconsin | |
St. Vincent Hospital Regional Cancer Center | |
Green Bay, Wisconsin, United States, 54307-3508 | |
Midwest Children's Cancer Center at Children's Hospital of Wisconsin | |
Milwaukee, Wisconsin, United States, 53226 | |
Australia, Victoria | |
Royal Children's Hospital | |
Parkville, Victoria, Australia, 3052 | |
Australia, Western Australia | |
Princess Margaret Hospital for Children | |
Perth, Western Australia, Australia, 6001 | |
Canada, British Columbia | |
Children's and Women's Hospital of British Columbia | |
Vancouver, British Columbia, Canada, V6H 3V4 | |
Canada, Manitoba | |
CancerCare Manitoba | |
Winnipeg, Manitoba, Canada, R3E 0V9 | |
Canada, Newfoundland and Labrador | |
Janeway Children's Health and Rehabilitation Centre | |
St. John's, Newfoundland and Labrador, Canada, A1B 3V6 | |
Canada, Nova Scotia | |
IWK Health Centre | |
Halifax, Nova Scotia, Canada, B3J 3G9 | |
Canada, Ontario | |
McMaster Children's Hospital at Hamilton Health Sciences | |
Hamilton, Ontario, Canada, L8N 3Z5 | |
Cancer Centre of Southeastern Ontario at Kingston General Hospital | |
Kingston, Ontario, Canada, K7L 2V7 | |
Children's Hospital of Western Ontario | |
London, Ontario, Canada, N6A 5W9 | |
Children's Hospital of Eastern Ontario | |
Ottawa, Ontario, Canada, K1H 8L1 | |
Hospital for Sick Children | |
Toronto, Ontario, Canada, M5G 1X8 | |
Canada, Quebec | |
Montreal Children's Hospital at McGill University Health Center | |
Montreal, Quebec, Canada, H3H 1P3 | |
Hopital Sainte Justine | |
Montreal, Quebec, Canada, H3T 1C5 | |
Canada | |
Centre Hospitalier Universitaire de Quebec | |
Quebec, Canada, G1V 4G2 |
Principal Investigator: | April D. Sorrell, MD | City of Hope Comprehensive Cancer Center |
Responsible Party: | Children's Oncology Group |
ClinicalTrials.gov Identifier: | NCT00959283 History of Changes |
Other Study ID Numbers: |
AAML08B1 COG-AAML08B1 ( Other Identifier: Children's Oncology Group ) CDR0000636115 ( Other Identifier: clinicaltrials.gov ) NCI-2011-02193 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) ) |
First Posted: | August 14, 2009 Key Record Dates |
Last Update Posted: | July 25, 2017 |
Last Verified: | July 2017 |
Keywords provided by Children's Oncology Group:
acute myeloid leukemia/transient myeloproliferative disorder |
Additional relevant MeSH terms:
Down Syndrome Myeloproliferative Disorders Leukemoid Reaction Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Abnormalities, Multiple |
Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Bone Marrow Diseases Hematologic Diseases Leukocytosis Leukocyte Disorders |