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Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Children's Oncology Group
ClinicalTrials.gov Identifier:
NCT00690469
First received: June 3, 2008
Last updated: January 30, 2014
Last verified: January 2014

June 3, 2008
January 30, 2014
June 2008
January 2100   (final data collection date for primary outcome measure)
  • Association of the probability of having a child with bilateral retinoblastoma (RB) with the paternal genotype for selected DNA repair and carcinogen metabolizing enzymes (CME) genes [ Time Frame: Not Provided ] [ Designated as safety issue: No ]
  • Probability that mothers of unilateral RB cases are more likely to have specific DNA-repair gene variants than the mothers of the control group [ Time Frame: Not Provided ] [ Designated as safety issue: No ]
  • Significant effect of specific DNA repair and CME genotypes on the risk of unilateral RB [ Time Frame: Not Provided ] [ Designated as safety issue: No ]
  • Probability that the bilateral RB1 mutation subtype will vary by DNA repair or CME genotype or preconception exposures of the fathers of bilateral RB cases [ Time Frame: Not Provided ] [ Designated as safety issue: No ]
  • Probability that the unilateral RB1 mutation subtype will vary by DNA repair or CME genotype of the mother, of the affected child, and with gestational exposures [ Time Frame: Not Provided ] [ Designated as safety issue: No ]
  • Association of the probability of having a child with bilateral retinoblastoma (RB) with the paternal genotype for selected DNA repair and carcinogen metabolizing enzymes (CME) genes [ Designated as safety issue: No ]
  • Probability that mothers of unilateral RB cases are more likely to have specific DNA-repair gene variants than the mothers of the control group [ Designated as safety issue: No ]
  • Significant effect of specific DNA repair and CME genotypes on the risk of unilateral RB [ Designated as safety issue: No ]
  • Probability that the bilateral RB1 mutation subtype will vary by DNA repair or CME genotype or preconception exposures of the fathers of bilateral RB cases [ Designated as safety issue: No ]
  • Probability that the unilateral RB1 mutation subtype will vary by DNA repair or CME genotype of the mother, of the affected child and with gestational exposures [ Designated as safety issue: No ]
Complete list of historical versions of study NCT00690469 on ClinicalTrials.gov Archive Site
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Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers
Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma

This laboratory study is looking at genetic mutations and environmental exposure in young patients with retinoblastoma and in their parents and young healthy unrelated volunteers. Gathering information about gene mutations and environmental exposure may help doctors learn more about the causes of retinoblastoma in young patients.

OBJECTIVES:

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.

Observational
Observational Model: Cohort
Time Perspective: Retrospective
Not Provided
Retention:   Samples With DNA
Description:

saliva samples, blood and tumor samples if enrolled on ARET0332

Non-Probability Sample

Diagnosed with sporadic retinoblastoma (RB) on or after 07/01/2006

  • Extraocular Retinoblastoma
  • Intraocular Retinoblastoma
  • Recurrent Retinoblastoma
  • Other: questionnaire administration
    Ancillary studies
  • Other: laboratory biomarker analysis
    Correlative studies
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.

Interventions:
  • Other: questionnaire administration
  • Other: laboratory biomarker analysis
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
245
Not Provided
January 2100   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Cases must meet the following 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
Both
Not Provided
Yes
Contact information is only displayed when the study is recruiting subjects
United States,   Canada,   Puerto Rico
 
NCT00690469
AEPI05N1, NCI-2009-00366, COG-AEPI05N1, CDR0000588296, AEPI05N1, AEPI05N1, U10CA098543
No
Children's Oncology Group
Children's Oncology Group
National Cancer Institute (NCI)
Principal Investigator: Greta Bunin, MD Children's Oncology Group
Children's Oncology Group
January 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP