- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05350761
Rare Tumors and Cancer Predisposition in Individuals and Families
Background:
Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in. Researchers want to learn more about the natural history of cancer.
Objective:
To understand how genes and environmental factors can cause tumors and related conditions.
Eligibility:
People of any age who:
Have tumors of an unusual type, pattern, or number
Have a family member with a history of cancer
Have been exposed to other factors that may increase their risk of cancer
Design:
This study does not involve treatment.
Participants will answer questions about their personal and family medical history. They will give permission for researchers to see their medical records.
Participants may be invited to the NIH Clinical Center for a physical exam. They may give samples including saliva, cheek cells, blood, urine, skin, and/or hair.
Participants with cancer may give bone marrow. A needle will be used to remove a small sample of bone marrow from their hip bone.
Participants may have a biopsy of their tumor.
Participants may have other exams:
Dental
Ear, nose, and throat
Eye
Hearing
Heart function and structure
Participants with cancer may undergo more exams:
A test of how much energy their body uses when resting
A sleep study with a test that measures brain electrical activity. They will have sensors attached to their body while they sleep overnight in a lab.
Imaging scans, such as CT, MRI, a test to measure how dense their bones are (DEXA), and ultrasound.
Participants will have their genes tested. A counsellor will help them understand the results.
Participants will be followed until at least 2035....
Study Overview
Status
Detailed Description
Study Description: The overall purpose of this study is to comprehensively and longitudinally evaluate the natural history of participants with rare tumors, genetic syndromes, genetic variants, and/or family history consistent with or hypothesized to contribute to predisposition to cancer(s) of interest to DCEG investigators. It will also facilitate evaluation of patients who may be candidates for other NIH Clinical Center (CC) clinical trials. These individuals and families will be evaluated and followed longitudinally to define the clinical spectrum (e.g., disease course, cancer risks, response to therapies, survival) and other phenotypic manifestations associated with rare tumors, genetic variants, and cancer predisposition syndromes.
Objectives:
- To evaluate and define the clinical spectrum (phenotype), penetrance and natural history of disease in syndromes predisposing to cancer;
- To evaluate the phenotypes and natural history arising from known -or suspected- pathogenic germline variants in known -or suspectedcancer-susceptibility genes;
- To evaluate potential neoplastic precursor conditions in individuals and families at risk of cancer;
- To quantify site-specific risks of such tumors in family members;
- To discover, map, and determine inheritance patterns and functions of cancer susceptibility genes;
- To identify etiologically or clinically relevant changes to the somatic genome in these patients;
- To educate and counsel study participants about cancer risk including quantitative risk assessment and communication; prevention and surveillance recommendations; early detection activities; and management recommendations, when known.
- To facilitate and enhance enrollment in interventional clinical trials within the NCI or other Institutes.
Endpoints:
Primary Endpoint: The general goals of the research conducted under this protocol are to:
- Discover germline cancer susceptibility genes
- Define the natural history and clinical spectrum of disease in high risk cancer susceptibility families
- Define potential precursor states
- Quantify risks of cancers in family members
- Identify differences between familial and sporadic neoplasia
- Identify genetic determinants, environmental risk factors, geneenvironment, and gene-gene interactions in high risk families
- Characterize the somatic genome of tumors from participants.
Secondary Endpoints:
- Define penetrance of tumors in family members
- Create full protocols for specific tumors or syndromes based on the pilot studies conducing within this study
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: NCI Family Study Referrals
- Phone Number: (800) 518-8474
- Email: ncifamilystudyreferrals@mail.nih.gov
Study Contact Backup
- Name: Sharon A Savage, M.D.
- Phone Number: (240) 276-7241
- Email: savagesh@mail.nih.gov
Study Locations
-
-
Maryland
-
Bethesda, Maryland, United States, 20892
- Recruiting
- National Institutes of Health Clinical Center
-
Rockville, Maryland, United States, 20850
- Recruiting
- NIH National Cancer Institute - Shady Grove
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- INCLUSION CRITERIA:
Although specific familial syndromes vary in prevalence by sex, race or ethnicity, no one is excluded from participation by sex, gender, race or ethnicity. Since families participate in studies, the sex distribution is essentially balanced, and all ages are included. Minor children below the age of assent are actively studied only when the benefits of participation outweigh the risks.
Affected: An individual who meets any of the following criteria will be eligible to participate in this study:
- Personal medical history of neoplasia of an unusual type, pattern, or number; or,
Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,
diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).
- There is no age restriction; therefore including viable neonates However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.
- Participant or their Legally Authorized Representative (LAR) must sign and date an IRB approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)
Unaffected Controls: An individual who meets any of the following criteria will be eligible to participate in this study:
- Family medical history of neoplasia of an unusual type, pattern, or number; or,
Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,
diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).
- There is no age restriction; therefore including viable neonates. However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.
- Participant or their LAR must sign and date an IRB-approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)
Personal and family medical history will be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial neoplasms, two or more living affected cases among family members are required. The types of suspected factors predisposing to neoplasia and/or familial tumors under active accrual and study will be investigator- and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by clusters of rare tumors in families and individuals, and to be more responsive to the dynamic research priorities in cancer genetics.
EXCLUSION CRITERIA:
Affected: An individual who meets any of the following criteria will be excluded from participation in this study:
- Referred individuals for whom reported diagnoses cannot be verified
- Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- Referred individuals who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma) Unaffected Controls: An individual who meets any of the following criteria will be excluded
from participation in this study:
- Referred families for whom reported diagnoses cannot be verified
- Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- Referred families who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma)
Study Plan
How is the study designed?
Design Details
- Observational Models: Family-Based
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
---|
Clinical Center Cohort
includes Proband, Other carriers in family, Family Controls
|
Field Cohort
includes Proband, Other carriers in family, Family Controls
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Defining the natural history of familial cancers and susceptibility states over multiple generations, identifying cancer susceptibility genes, and assessing gene-environment and gene-gene interactions
Time Frame: Ongoing
|
New cancer development or current health status
|
Ongoing
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Sharon A Savage, M.D., National Cancer Institute (NCI)
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 10000678
- 000678-C
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD Sharing Time Frame
IPD Sharing Access Criteria
IPD Sharing Supporting Information Type
- SAP
- ICF
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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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