Research on the Environment and Children's Health: Retinoblastoma

The purpose of the research study is to learn more about the causes of retinoblastoma and to identify possible risk factors in the parents of patients with retinoblastoma. This kind of study is called an epidemiology study and is often done by interviewing people with and without the disease. In the case of a childhood disease, the researchers ask about experiences of the parents and children before the disease developed.

Study Overview

• Status: Completed
• Conditions: Retinoblastoma

Detailed Description

The purpose of the study is to investigate the role of paternal exposures in the etiology of sporadic heritable retinoblastoma (RBL). The study has a matched case-control design with a sample size of 255 pairs. Cases will be children with sporadic heritable (RBL) identified from eight hospitals that together treat most of the RBL patients in the U.S. and Canada. We will use regional controls matched on year of birth and state/province of residence identified by randomdigit-dialing (RDD). Fathers and mothers of cases and controls will be interviewed by telephone about their occupational, medical, dietary, and personal exposures before the index child's conception. Blood samples will be obtained on cases and their parents for DNA isolation. The case's DNA will be used to characterize the disease-causing RB1 mutation. The parent's DNA will be used to detect the few instances in which a parent also has the RB1 mutation, i.e., the child's RBL is familial rather than sporadic.

• Study Type: Observational
• Enrollment (Anticipated): 78

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10065
      • Memorial Sloan-Kettering Cancer Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The subjects (cases) will be children with sporadic heritable RBL and their parents. Parents of children without RBL will be identified and will participate as controls.

Description

Inclusion Criteria:

• Cases will be children with sporadic heritable RBL, i.e., bilateral RBL without a family history of the disorder.
• Cases will be diagnosed with retinoblastoma in an approximately 7-year period, beginning January 1, 1998 and continuing until the sample size is reached.
• The case family must reside in the continental U.S., Alaska, or Canada.
• The case family must have a telephone in the household.
• The patient's physician must give permission to contact the parents of the case.
• The biologic father or mother of the case must be available and consent to be interviewed.
• The father or mother must speak English or Spanish.
• Genetic counseling regarding RB1 gene mutation analysis must be done prior to registration onto study.

Exclusion Criteria:

- Cases that do not meet the above criteria will be ineligible to participate and excluded from the study.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
1; Cases: retinoblastoma patients
2; Controls: first cousins or other blood relatives of the retinoblastoma patients (relative controls) or friends of the retinoblastoma patients or children of friends of the parents (friend controls).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
demographic and exposure information by telephone interview	5 years 4 months

Collaborators and Investigators

• Sponsor: Memorial Sloan Kettering Cancer Center
• Collaborators: University of Pennsylvania; Milton S. Hershey Medical Center; New York Presbyterian Hospital

Publications and helpful links

Helpful Links

• Memorial Sloan-Kettering Cancer Center

Study record dates

Study Major Dates

• Study Start: August 1, 2003
• Primary Completion (Actual): June 1, 2008
• Study Completion (Actual): June 1, 2008

Study Registration Dates

• First Submitted: December 21, 2007
• First Submitted That Met QC Criteria: December 21, 2007
• First Posted (Estimate): December 28, 2007

Study Record Updates

• Last Update Posted (Estimate): July 4, 2008
• Last Update Submitted That Met QC Criteria: July 3, 2008
• Last Verified: June 1, 2008

More Information

Terms related to this study

• Keywords: Retinoblastoma; Sporadic heritable retinoblastoma; Paternal exposures
• Additional Relevant MeSH Terms: Neoplasms by Histologic Type; Neoplasms; Neoplasms by Site; Neoplasms, Glandular and Epithelial; Eye Diseases; Retinal Diseases; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Eye Diseases, Hereditary; Eye Neoplasms; Retinal Neoplasms; Retinoblastoma
• Other Study ID Numbers: 03-030