- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00342797
Retinoblastoma Biomarker Study
March 6, 2024 updated by: National Cancer Institute (NCI)
Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations in the tumor suppressor gene RB1.
Survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1 mutations) are highly susceptible to developing additional malignancies, which are a major cause of morbidity and mortality.
Since 1984, REB has followed a cohort of 2136 (including 1,995 one-year) retinoblastoma survivors to investigate the contributions of treatment and genetic risk factors to second cancer etiology.
The last systematic follow-up for second cancer incidence and cause-specific mortality was completed in 2009.
As the cohort ages, we now propose to conduct another interview survey to collect information on newly diagnosed second cancers.
Additionally, we propose to expand collection of germline DNA for additional molecular studies in survivors.
Retinoblastoma survivors have now entered adult ages when epithelial tumors would be expected to occur with greater frequency.
Given that the somatic mutations in the RB1 pathway have been identified in several epithelial tumors (bladder, brain, breast, esophagus, liver, lung, prostate) in addition to sarcomas, it is important to collect new information on these epithelial tumors, and to investigate whether the previously identified high risks of sarcomas and melanoma will persist as the cohort ages.
Additionally, our understanding of genetic susceptibility to second cancers is limited.
Given that this is the only cohort of long-term survivors of retinoblastoma being followed in the U.S., combined with the leadership role of REB in the study of second cancers, continued follow-up of this cohort will provide unique clinical and epidemiologic data on the long-term cumulative risk of second cancers in this distinctive cohort of childhood cancer survivors.
Study Overview
Status
Completed
Conditions
Detailed Description
Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations in the tumor suppressor gene RB1.
Survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1 mutations) are highly susceptible to developing additional malignancies, which are a major cause of morbidity and mortality.
Since 1984, REB has followed a cohort of 2136 (including 1,995 one-year) retinoblastoma survivors to investigate the contributions of treatment and genetic risk factors to second cancer etiology.
The last systematic follow-up for second cancer incidence and cause-specific mortality was completed in 2009.
As the cohort ages, we now propose to conduct another interview survey to collect information on newly diagnosed second cancers.
Additionally, we propose to expand collection of germline DNA for additional molecular studies in survivors.
Retinoblastoma survivors have now entered adult ages when epithelial tumors would be expected to occur with greater frequency.
Given that the somatic mutations in the RB1 pathway have been identified in several epithelial tumors (bladder, brain, breast, esophagus, liver, lung, prostate) in addition to sarcomas, it is important to collect new information on these epithelial tumors, and to investigate whether the previously identified high risks of sarcomas and melanoma will persist as the cohort ages.
Additionally, our understanding of genetic susceptibility to second cancers is limited.
Given that this is the only cohort of long-term survivors of retinoblastoma being followed in the U.S., combined with the leadership role of REB in the study of second cancers, continued follow-up of this cohort will provide unique clinical and epidemiologic data on the long-term cumulative risk of second cancers in this distinctive cohort of childhood cancer survivors.
Study Type
Observational
Enrollment (Actual)
2136
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
Maryland
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Bethesda, Maryland, United States, 20892
- National Cancer Institute (NCI)
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Massachusetts
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Boston, Massachusetts, United States, 02114-3096
- Massachusetts Eye and Ear Infirmary
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New York
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New York, New York, United States, 10021
- Memorial Sloan-Kettering Cancer Center
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North Carolina
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Durham, North Carolina, United States, 27703
- Social Scientific Systems, Inc.
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-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
7 years and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
Survivors of retinoblastoma treated at hospitals in New York City and Boston between 1914-2006 and US residents.
Description
- INCLUSION CRITERIA:
Children treated for retroblastoma over the past 30-plus years.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Retrospective
Cohorts and Interventions
Group / Cohort |
---|
Retinoblastoma cohort
Retinoblastoma patients treated at two hospitals in New York and one hospital in Boston from 1914-2006.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Mutation in RB1 gene
Time Frame: once
|
Location of mutation in the RB1 gene
|
once
|
Subsequent Cancer
Time Frame: At least one year after retinoblastoma
|
Risk of subsequent cancer in relation to prior treatment and RB1 mutation
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At least one year after retinoblastoma
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: Lindsay M Morton, Ph.D., National Cancer Institute (NCI)
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Wong JR, Morton LM, Tucker MA, Abramson DH, Seddon JM, Sampson JN, Kleinerman RA. Risk of subsequent malignant neoplasms in long-term hereditary retinoblastoma survivors after chemotherapy and radiotherapy. J Clin Oncol. 2014 Oct 10;32(29):3284-90. doi: 10.1200/JCO.2013.54.7844. Epub 2014 Sep 2.
- Kleinerman RA, Tucker MA, Sigel BS, Abramson DH, Seddon JM, Morton LM. Patterns of Cause-Specific Mortality Among 2053 Survivors of Retinoblastoma, 1914-2016. J Natl Cancer Inst. 2019 Sep 1;111(9):961-969. doi: 10.1093/jnci/djy227.
- Kleinerman RA, Schonfeld SJ, Sigel BS, Wong-Siegel JR, Gilbert ES, Abramson DH, Seddon JM, Tucker MA, Morton LM. Bone and Soft-Tissue Sarcoma Risk in Long-Term Survivors of Hereditary Retinoblastoma Treated With Radiation. J Clin Oncol. 2019 Dec 10;37(35):3436-3445. doi: 10.1200/JCO.19.01096. Epub 2019 Oct 17.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
November 17, 1993
Primary Completion (Actual)
March 6, 2024
Study Completion (Actual)
March 6, 2024
Study Registration Dates
First Submitted
June 19, 2006
First Submitted That Met QC Criteria
June 19, 2006
First Posted (Estimated)
June 21, 2006
Study Record Updates
Last Update Posted (Actual)
March 7, 2024
Last Update Submitted That Met QC Criteria
March 6, 2024
Last Verified
March 1, 2024
More Information
Terms related to this study
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
- 999993033
- OH93-NC-N033
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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