Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers
NCT ID: NCT00690469
Last Updated: 2019-10-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
234 participants
OBSERVATIONAL
2008-06-02
Brief Summary
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Detailed Description
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I. To investigate the role of genotypes for carcinogen metabolizing enzymes (CME) and DNA repair proteins(DRPs) of the father of children diagnosed with retinoblastoma (RB) and his environmental exposures prior to the child?s conception in the etiology of sporadic bilateral retinoblastoma.
II. To test if the prevalence of preconception environmental exposures and polymorphisms with known or predicted functional consequences in genes for CMEs and DRPs is different in fathers of children with sporadic bilateral RB compared with fathers of the control group.
III. To test if the prevalence of the father?s preconception environmental exposures and his polymorphisms in CMEs and DRPs differs between subsets of cases defined by the type of mutation at the RB1 gene locus.
IV. To investigate the role of genotypes for CMEs and DRPs of the mother and child and environmental exposures after the child?s conception in the etiology of sporadic unilateral RB.
V. To test if the prevalence of environmental exposures during the pregnancy and polymorphisms with known or predicted functional consequences in CMEs is different in the mothers of children with sporadic unilateral RB compared with mothers of the control group.
VI. To test if the prevalence of polymorphisms in genes for CMEs and DRPs with known or predicted functional consequences is different in the children with sporadic unilateral RB compared with controls.
VII. To test if the prevalence of gestational exposures and polymorphisms in genes for CMEs of the mother and the polymorphisms in genes for CME and DRPs in the children differs between subsets of cases defined by the type of mutation at the RB1 gene locus.
OUTLINE: This is a multicenter study.
Participants undergo a structured telephone interview questionnaire. The parental questionnaires collect basic demographic data (including age, race, education, and income), occupational history, medical radiation exposure, diet and supplement use (for the year before pregnancy for father, during pregnancy for mother), tobacco use, and alcohol use. The mothers are also asked about residential pesticides and prior assisted reproductive technology.
Controls (parents) provide saliva samples. If a patient is also enrolled on COG-ARET0332, then the patient blood and tumor samples should be submitted. Parents of patients on this protocol should also submit a blood sample. Blood samples from the affected child, and blood and/or sputum samples from the parents may be submitted. Tumor specimens should be submitted if available.
For some patients, a RB1 mutation detection assay on DNA derived from peripheral blood is performed. If the mutation is found, the parents? DNA is also screened. Blood samples undergo DNA-based sequencing analysis, single nucleotide polymorphism genotyping, quantitative Southern blot analysis, isolation of RNA and reverse transcriptase-polymerase chain reaction analysis, and loss of heterozygosity analysis.
Conditions
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Study Groups
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Observational (biomarker analysis)
Participants undergo a structured telephone interview questionnaire. The parental questionnaires collect basic demographic data (including age, race, education, and income), occupational history, medical radiation exposure, diet and supplement use (for the year before pregnancy for father, during pregnancy for mother), tobacco use, and alcohol use. The mothers are also asked about residential pesticides and prior assisted reproductive technology.
Controls (parents) provide saliva samples. If a patient is also enrolled on COG-ARET0332, then the patient blood and tumor samples should be submitted. Parents of patients on this protocol should also submit a blood sample. Blood samples from the affected child, and blood and/or sputum samples from the parents may be submitted. Tumor specimens should be submitted if available.
For some patients, a RB1 mutation detection assay on DNA derived from peripheral blood is performed. If the mutation is found, the parents? DNA is also screened.
Laboratory Biomarker Analysis
Correlative studies
Questionnaire Administration
Ancillary studies
Interventions
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Laboratory Biomarker Analysis
Correlative studies
Questionnaire Administration
Ancillary studies
Eligibility Criteria
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Inclusion Criteria
* Diagnosed with sporadic retinoblastoma (RB) on or after 07/01/2006
* No familial retinoblastoma
* Have permission of physician to contact the parents
* Diagnosed and/or treated at a Children's Oncology Group (COG) institution or \*Wills Eye Hospital
* Controls must meet 1 of the following criteria:
* Mother of a child with unilateral RB
* Father of a child with bilateral RB
* Age-matched non-blood-related child if possible
* Must reside in the U.S. or Canada
* Must have telephone in the home
* Biological parent speaks English or Spanish
* Concurrent treatment on a therapeutic trial is NOT required
ALL
Yes
Sponsors
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National Cancer Institute (NCI)
NIH
Children's Oncology Group
NETWORK
Responsible Party
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Principal Investigators
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Greta Bunin
Role: PRINCIPAL_INVESTIGATOR
Children's Oncology Group
Locations
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Children's Hospital Los Angeles
Los Angeles, California, United States
Children's Hospital Central California
Madera, California, United States
UCSF Medical Center-Mount Zion
San Francisco, California, United States
UCSF Medical Center-Parnassus
San Francisco, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
Connecticut Children's Medical Center
Hartford, Connecticut, United States
Alfred I duPont Hospital for Children
Wilmington, Delaware, United States
MedStar Georgetown University Hospital
Washington D.C., District of Columbia, United States
Nemours Children's Clinic-Jacksonville
Jacksonville, Florida, United States
University of Miami Miller School of Medicine-Sylvester Cancer Center
Miami, Florida, United States
Nemours Children's Clinic - Orlando
Orlando, Florida, United States
Nemours Children's Clinic - Pensacola
Pensacola, Florida, United States
Sacred Heart Hospital
Pensacola, Florida, United States
Johns Hopkins All Children's Hospital
St. Petersburg, Florida, United States
Saint Joseph's Hospital/Children's Hospital-Tampa
Tampa, Florida, United States
Saint Mary's Hospital
West Palm Beach, Florida, United States
Children's Healthcare of Atlanta - Egleston
Atlanta, Georgia, United States
Emory University Hospital/Winship Cancer Institute
Atlanta, Georgia, United States
Lurie Children's Hospital-Chicago
Chicago, Illinois, United States
University of Illinois
Chicago, Illinois, United States
Indiana University/Melvin and Bren Simon Cancer Center
Indianapolis, Indiana, United States
Riley Hospital for Children
Indianapolis, Indiana, United States
University of Iowa/Holden Comprehensive Cancer Center
Iowa City, Iowa, United States
University of Kentucky/Markey Cancer Center
Lexington, Kentucky, United States
Wayne State University/Karmanos Cancer Institute
Detroit, Michigan, United States
Helen DeVos Children's Hospital at Spectrum Health
Grand Rapids, Michigan, United States
Spectrum Health at Butterworth Campus
Grand Rapids, Michigan, United States
University of Minnesota/Masonic Cancer Center
Minneapolis, Minnesota, United States
Mayo Clinic
Rochester, Minnesota, United States
University of Mississippi Medical Center
Jackson, Mississippi, United States
Columbia Regional
Columbia, Missouri, United States
University of Missouri - Ellis Fischel
Columbia, Missouri, United States
The Childrens Mercy Hospital
Kansas City, Missouri, United States
Washington University School of Medicine
St Louis, Missouri, United States
Nevada Cancer Research Foundation CCOP
Las Vegas, Nevada, United States
University of New Mexico Cancer Center
Albuquerque, New Mexico, United States
Memorial Sloan Kettering Cancer Center
New York, New York, United States
Duke University Medical Center
Durham, North Carolina, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Rainbow Babies and Childrens Hospital
Cleveland, Ohio, United States
Cleveland Clinic Foundation
Cleveland, Ohio, United States
Nationwide Children's Hospital
Columbus, Ohio, United States
Dayton Children's Hospital
Dayton, Ohio, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States
Texas Tech University Health Sciences Center-Amarillo
Amarillo, Texas, United States
Driscoll Children's Hospital
Corpus Christi, Texas, United States
Cook Children's Medical Center
Fort Worth, Texas, United States
University of Texas Health Science Center at San Antonio
San Antonio, Texas, United States
British Columbia Children's Hospital
Vancouver, British Columbia, Canada
IWK Health Centre
Halifax, Nova Scotia, Canada
San Jorge Children's Hospital
San Juan, , Puerto Rico
Countries
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Other Identifiers
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NCI-2009-00366
Identifier Type: REGISTRY
Identifier Source: secondary_id
COG-AEPI05N1
Identifier Type: -
Identifier Source: secondary_id
CDR0000588296
Identifier Type: -
Identifier Source: secondary_id
AEPI05N1
Identifier Type: -
Identifier Source: secondary_id
AEPI05N1
Identifier Type: OTHER
Identifier Source: secondary_id
AEPI05N1
Identifier Type: OTHER
Identifier Source: secondary_id
AEPI05N1
Identifier Type: -
Identifier Source: org_study_id
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