Know Cancer

forgot password

Biology Study of Transient Myeloproliferative Disorder (TMD) in Children With Down Syndrome (DS)

1 Year
Open (Enrolling)

Thank you

Trial Information

Biology Study of Transient Myeloproliferative Disorder (TMD) in Children With Down Syndrome (DS)


- 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

Patients are followed up periodically for 5 years.

Inclusion Criteria


- 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

- 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

- Infants with isolated trisomy 21 positivity identified only in the leukemic
blasts are allowed

- Institutional immunophenotype characterization is required for study enrollment


- Not specified


- Not specified

Type of Study:


Study Design:


Outcome Measure:

Event-free survival

Safety Issue:


Principal Investigator

April D. Sorrell, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Beckman Research Institute



Study ID:




Start Date:

February 2009

Completion Date:

Related Keywords:

  • Leukemia
  • acute myeloid leukemia/transient myeloproliferative disorder
  • Down Syndrome
  • Leukemia
  • Myeloproliferative Disorders



Roswell Park Cancer Institute Buffalo, New York  14263
Children's Hospital of Philadelphia Philadelphia, Pennsylvania  19104
Mayo Clinic Cancer Center Rochester, Minnesota  55905
University of Chicago Cancer Research Center Chicago, Illinois  60637
Barbara Ann Karmanos Cancer Institute Detroit, Michigan  48201
Hurley Medical Center Flint, Michigan  48503
Medical City Dallas Hospital Dallas, Texas  75230
University of Texas Health Science Center at San Antonio San Antonio, Texas  78284-7811
CCOP - Kalamazoo Kalamazoo, Michigan  49007-3731
Presbyterian - St. Luke's Medical Center Denver, Colorado  80218
Van Elslander Cancer Center at St. John Hospital and Medical Center Grosse Pointe Woods, Michigan  48236
CCOP - MeritCare Hospital Fargo, North Dakota  58122
Natalie Warren Bryant Cancer Center at St. Francis Hospital Tulsa, Oklahoma  74136
Sanford Cancer Center at Sanford USD Medical Center Sioux Falls, South Dakota  57117-5039
Vanderbilt-Ingram Cancer Center Nashville, Tennessee  37232-6838
Holden Comprehensive Cancer Center at University of Iowa Iowa City, Iowa  52242-1002
Ellis Fischel Cancer Center at University of Missouri - Columbia Columbia, Missouri  65203
Norris Cotton Cancer Center at Dartmouth-Hitchcock Medical Center Lebanon, New Hampshire  03756-0002
Lineberger Comprehensive Cancer Center at University of North Carolina - Chapel Hill Chapel Hill, North Carolina  27599-7570
Cancer Research Center of Hawaii Honolulu, Hawaii  96813
Cleveland Clinic Taussig Cancer Center Cleveland, Ohio  44195
Brooke Army Medical Center Fort Sam Houston, Texas  78234-6200
Sutter Cancer Center Sacramento, California  95816
Children's Hospital of Orange County Orange, California  92668
Children's Mercy Hospital Kansas City, Missouri  64108
St. Joseph's Hospital and Medical Center Paterson, New Jersey  07503
Children's Hospital and Regional Medical Center - Seattle Seattle, Washington  98105
University of California Davis Cancer Center Sacramento, California  95817
Nemours Children's Clinic Jacksonville, Florida  32207
All Children's Hospital St. Petersburg, Florida  33701
Children's Memorial Hospital - Chicago Chicago, Illinois  60614
Children's Hospital of New Orleans New Orleans, Louisiana  70118
Cardinal Glennon Children's Hospital Saint Louis, Missouri  63104
Schneider Children's Hospital New Hyde Park, New York  11042
St. Jude Children's Research Hospital Memphis, Tennessee  38105-2794
Driscoll Children's Hospital Corpus Christi, Texas  78466
Cook Children's Medical Center - Fort Worth Fort Worth, Texas  76104
Fletcher Allen Health Care - University Health Center Campus Burlington, Vermont  05401
Phoenix Children's Hospital Phoenix, Arizona  85016-7710
Southern California Permanente Medical Group Downey, California  90242
Children's Hospital Central California Madera, California  93638-8762
Kosair Children's Hospital Louisville, Kentucky  40202-3830
Palmetto Health South Carolina Cancer Center Columbia, South Carolina  29203
East Tennessee Children's Hospital Knoxville, Tennessee  37901
Children's Hospital of the King's Daughters Norfolk, Virginia  23507
Midwest Children's Cancer Center at Children's Hospital of Wisconsin Milwaukee, Wisconsin  53226
Arkansas Cancer Research Center at University of Arkansas for Medical Sciences Little Rock, Arkansas  72205
Blumenthal Cancer Center at Carolinas Medical Center Charlotte, North Carolina  28232-2861
Overlook Hospital Summit, New Jersey  07902-0220
Winthrop University Hospital Mineola, New York  11501
Loma Linda University Cancer Institute at Loma Linda University Medical Center Loma Linda, California  92354
Jonathan Jaques Children's Cancer Center at Miller Children's Hospital Long Beach, California  90801
Yale Cancer Center New Haven, Connecticut  06520-8028
Lee Cancer Care of Lee Memorial Health System Fort Myers, Florida  33901
Nemours Children's Clinic - Orlando Orlando, Florida  32806
Florida Hospital Cancer Institute at Florida Hospital Orlando Orlando, Florida  32803-1273
St. Joseph's Cancer Institute at St. Joseph's Hospital Tampa, Florida  33607
Kaplan Cancer Center at St. Mary's Medical Center West Palm Beach, Florida  33407
St. Vincent Indianapolis Hospital Indianapolis, Indiana  46260
Blank Children's Hospital Des Moines, Iowa  50309
Alvin and Lois Lapidus Cancer Institute at Sinai Hospital Baltimore, Maryland  21215
Floating Hospital for Children at Tufts - New England Medical Center Boston, Massachusetts  02111
Breslin Cancer Center at Ingham Regional Medical Center Lansing, Michigan  48910
Hackensack University Medical Center Cancer Center Hackensack, New Jersey  07601
Albert Einstein Cancer Center at Albert Einstein College of Medicine Bronx, New York  10461
NYU Cancer Institute at New York University Medical Center New York, New York  10016
Stony Brook University Cancer Center Stony Brook, New York  11794-8174
SUNY Upstate Medical University Hospital Syracuse, New York  13210
Mission Hospitals - Memorial Campus Asheville, North Carolina  28801
Presbyterian Cancer Center at Presbyterian Hospital Charlotte, North Carolina  28233-3549
Wake Forest University Comprehensive Cancer Center Winston-Salem, North Carolina  27157-1096
Cincinnati Children's Hospital Medical Center Cincinnati, Ohio  45229-3039
Rainbow Babies and Children's Hospital Cleveland, Ohio  44106-5000
Toledo Hospital Toledo, Ohio  43606
Rhode Island Hospital Comprehensive Cancer Center Providence, Rhode Island  02903
Hollings Cancer Center at Medical University of South Carolina Charleston, South Carolina  29425
Texas Tech University Health Sciences Center School of Medicine - Amarillo Amarillo, Texas  79106
Simmons Comprehensive Cancer Center at University of Texas Southwestern Medical Center - Dallas Dallas, Texas  75390
Baylor University Medical Center - Houston Houston, Texas  77030-2399
Primary Children's Medical Center Salt Lake City, Utah  84113-1100
Providence Cancer Center at Sacred Heart Medical Center Spokane, Washington  99220-2555
St. Vincent Hospital Regional Cancer Center Green Bay, Wisconsin  54307-3508
Saint Peter's University Hospital New Brunswick, New Jersey  08901-1780
James P. Wilmot Cancer Center at University of Rochester Medical Center Rochester, New York  14642
David C. Pratt Cancer Center at St. John's Mercy St. Louis, Missouri  63141
UNMC Eppley Cancer Center at the University of Nebraska Medical Center Omaha, Nebraska  68198-7680
Memorial Cancer Institute at Memorial Regional Hospital Hollywood, Florida  33021
Samuel Oschin Comprehensive Cancer Institute at Cedars-Sinai Medical Center Los Angeles, California  90048-1865
Jonsson Comprehensive Cancer Center at UCLA Los Angeles, California  90095-1781
Childrens Hospital Los Angeles Los Angeles, California  90027
Children's Hospital and Research Center Oakland Oakland, California  94609
Lucile Packard Children's Hospital at Stanford University Medical Center Palo Alto, California  95798
Rady Children's Hospital - San Diego San Diego, California  92123-4282
UCSF Helen Diller Family Comprehensive Cancer Center San Francisco, California  94115
Alfred I. duPont Hospital for Children Wilmington, Delaware  19803
Lombardi Comprehensive Cancer Center at Georgetown University Medical Center Washington, District of Columbia  20007
M.D. Anderson Cancer Center at Orlando Orlando, Florida  32806
AFLAC Cancer Center and Blood Disorders Service of Children's Healthcare of Atlanta - Egleston Campus Atlanta, Georgia  30322
Curtis and Elizabeth Anderson Cancer Institute at Memorial Health University Medical Center Savannah, Georgia  31403-3089
Mountain States Tumor Institute at St. Luke's Regional Medical Center Boise, Idaho  83712-6297
University of Illinois Cancer Center Chicago, Illinois  60612-7243
Keyser Family Cancer Center at Advocate Hope Children's Hospital Oak Lawn, Illinois  60453
Simmons Cooper Cancer Institute Springfield, Illinois  62794-9677
Lucille P. Markey Cancer Center at University of Kentucky Lexington, Kentucky  40536-0093
Tulane Cancer Center Office of Clinical Research Alexandria, Louisiana  71315-3198
CancerCare of Maine at Eastern Maine Medical Center Bangor, Maine  04401
C.S. Mott Children's Hospital at University of Michigan Medical Center Ann Arbor, Michigan  48109-0286
Children's Hospitals and Clinics of Minnesota - Minneapolis Minneapolis, Minnesota  55404
University of Mississippi Cancer Clinic Jackson, Mississippi  39216-4505
Siteman Cancer Center at Barnes-Jewish Hospital - Saint Louis St. Louis, Missouri  63110
Children's Hospital Omaha, Nebraska  68114-4113
CCOP - Nevada Cancer Research Foundation Las Vegas, Nevada  89109-2306
Cancer Institute of New Jersey at UMDNJ - Robert Wood Johnson Medical School New Brunswick, New Jersey  08903
University of New Mexico Cancer Center Albuquerque, New Mexico  87131-5636
Albany Medical Center Hospital Albany, New York  12208-3419
Herbert Irving Comprehensive Cancer Center at Columbia University Medical Center New York, New York  10032
Akron Children's Hospital Akron, Ohio  44308-1062
Nationwide Children's Hospital Columbus, Ohio  43205-2696
Dayton Children's - Dayton Dayton, Ohio  45404-1815
Oklahoma University Cancer Institute Oklahoma City, Oklahoma  73104
Knight Cancer Institute at Oregon Health and Science University Portland, Oregon  97239-3098
Legacy Emanuel Hospital and Health Center and Children's Hospital Portland, Oregon  97227
Geisinger Cancer Institute at Geisinger Health Danville, Pennsylvania  17822-0001
Penn State Children's Hospital Hershey, Pennsylvania  17033-0850
Children's Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania  15213
Carilion Medical Center for Children at Roanoke Community Hospital Roanoke, Virginia  24014
Mary Bridge Children's Hospital and Health Center - Tacoma Tacoma, Washington  98405
West Virginia University Health Sciences Center - Charleston Charleston, West Virginia  25302
Riley's Children Cancer Center at Riley Hospital for Children Indianapolis, Indiana  46202-5225
University of Virginia Cancer Center Charlottesville, Virginia  22908
UAB Comprehensive Cancer Center Birmingham, Alabama  35294
Duke Cancer Institute Durham, North Carolina  27710
T.C. Thompson Children's Hospital Chattanooga, Tennessee  37403
Connecticut Children's Medical Center Hartford, Connecticut  06106
Children's Hospital Colorado Center for Cancer and Blood Disorders Aurora, Colorado  80045
Nemours Children's Clinic - Pensacola Pensacola, Florida  32504
Helen DeVos Children's Hospital at Spectrum Health Grand Rapids, Michigan  49503
Mercy Children's Hospital Toledo, Ohio  43608