Ignite Creation Date:
2024-05-05 @ 11:54 PM
Last Modification Date:
2024-10-26 @ 10:41 AM
Study NCT ID:
NCT01443468
Status:
RECRUITING
Last Update Posted:
2024-07-12
First Post:
2011-09-28
Brief Title:
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Epidemiologic and Genetic Studies of Li-Fraumeni Syndrome
Status:
RECRUITING
Status Verified Date:
2024-09-27
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
- Li-Fraumeni syndrome LFS is a genetic condition that increases the risk for some types of cancer LFS may lead to cancer of the bone or connective tissue breast and brain It may also increase the risk for certain types of leukemia and other cancers The only known cause of LFS is a change called a mutation in a gene known as TP53 However not all people with LFS have a TP53 mutation Researchers want to study other possible genetic causes of LFS and factors that may increase or decrease cancer risk in people with the syndrome
Objectives
To learn more about the types of cancers that occur in individuals with LFS
To study the role of the TP53 gene in the development of cancer
To look for other possible genes that cause LFS
To study the effect of LFS diagnosis on families
To determine if environmental factors or other genes can change a person s cancer risk associated with LFS
Eligibility
Individuals with a family or personal medical history of cancers consistent with LFS
Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS but the history is suggestive for LFS meets the diagnosis for the so-called Li-Fraumeni like syndrome
Individuals with certain rare cancers
Individuals with a family or personal history of a TP53 gene mutation with or without related cancers
Design
Participants will fill out a medical history questionnaire and a family history questionnaire
Blood samples will be collected for DNA and for storage Cheek cell samples may be collected if blood cannot be obtained for DNA Participants can choose to have or not have cancer screening with blood tests imaging studies and other exams
Participants will complete questionnaires about their worries about cancer stress levels and coping strategies Diet and physical activity questionnaires will also be given Other psychological tests may be given as needed
Participants will be monitored for several years with regular followup visits to the National Institutes of Health if indicated Any changes in health or cancer status will be recorded
- Li-Fraumeni syndrome LFS is a genetic condition that increases the risk for some types of cancer LFS may lead to cancer of the bone or connective tissue breast and brain It may also increase the risk for certain types of leukemia and other cancers The only known cause of LFS is a change called a mutation in a gene known as TP53 However not all people with LFS have a TP53 mutation Researchers want to study other possible genetic causes of LFS and factors that may increase or decrease cancer risk in people with the syndrome
Objectives
To learn more about the types of cancers that occur in individuals with LFS
To study the role of the TP53 gene in the development of cancer
To look for other possible genes that cause LFS
To study the effect of LFS diagnosis on families
To determine if environmental factors or other genes can change a person s cancer risk associated with LFS
Eligibility
Individuals with a family or personal medical history of cancers consistent with LFS
Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS but the history is suggestive for LFS meets the diagnosis for the so-called Li-Fraumeni like syndrome
Individuals with certain rare cancers
Individuals with a family or personal history of a TP53 gene mutation with or without related cancers
Design
Participants will fill out a medical history questionnaire and a family history questionnaire
Blood samples will be collected for DNA and for storage Cheek cell samples may be collected if blood cannot be obtained for DNA Participants can choose to have or not have cancer screening with blood tests imaging studies and other exams
Participants will complete questionnaires about their worries about cancer stress levels and coping strategies Diet and physical activity questionnaires will also be given Other psychological tests may be given as needed
Participants will be monitored for several years with regular followup visits to the National Institutes of Health if indicated Any changes in health or cancer status will be recorded
Detailed Description:
Study Description
This is a natural history study involving questionnaires clinical and research evaluations clinical and research laboratory tests review of
medical records and cancer surveillance This is a prospective long-term study of individuals at high risk of cancer due to Li-Fraumeni Syndrome LFS or Li-Fraumeni-Like Syndrome LFL using a cohort approach Enrollees are invited to participate in all aspects of the study but can choose to opt out of specific parts
Objectives
Primary Objectives
To ascertainenroll individuals and families with Li-Fraumeni Syndrome LFS and Li-Fraumeni-Like Syndrome LFL
To evaluation and define the clinical spectrum and natural history of disease in LFS and LFL
To quantify cumulative cancer risk in individuals with LFS or LFL
To develop a cancer screening program for individuals with LFS or LFL
To investigate the mechanisms of tumorigenesis in LFS-related tumors eg cell proliferation growth regulation apoptosis
To identify genetic determinants environmental factors and gene-environment interactions that potentially modify cancer risk in
these high-risk individuals
To evaluate the psychological behavioral and social functioning effects of LFS on affected individuals and their family members
To explore the plausibility of lifestyle interventions as potential strategies for cancer risk reduction
To create an annotated biospecimen repository of LFS-related for translational etiologic and outcomes research
Secondary Objectives
-To evaluate specific tumor characteristics including histologies eg leukemia types brain tumor types etc of cancers
diagnosed in individuals with LFS or LFL
-To evaluate the potential effect of therapeutic radiation and radiation exposure from diagnosticscreening imaging studies on
cancer risk
To provide education cancer risk assessment and risk management recommendations for study participants
To collect clinical data related to the treatment of LFS-related cancers so that outcome and survival may be evaluated
Endpoints Primary Endpoint
-Occurrence of cancer in individuals and families with LFS or LFL
This is a natural history study involving questionnaires clinical and research evaluations clinical and research laboratory tests review of
medical records and cancer surveillance This is a prospective long-term study of individuals at high risk of cancer due to Li-Fraumeni Syndrome LFS or Li-Fraumeni-Like Syndrome LFL using a cohort approach Enrollees are invited to participate in all aspects of the study but can choose to opt out of specific parts
Objectives
Primary Objectives
To ascertainenroll individuals and families with Li-Fraumeni Syndrome LFS and Li-Fraumeni-Like Syndrome LFL
To evaluation and define the clinical spectrum and natural history of disease in LFS and LFL
To quantify cumulative cancer risk in individuals with LFS or LFL
To develop a cancer screening program for individuals with LFS or LFL
To investigate the mechanisms of tumorigenesis in LFS-related tumors eg cell proliferation growth regulation apoptosis
To identify genetic determinants environmental factors and gene-environment interactions that potentially modify cancer risk in
these high-risk individuals
To evaluate the psychological behavioral and social functioning effects of LFS on affected individuals and their family members
To explore the plausibility of lifestyle interventions as potential strategies for cancer risk reduction
To create an annotated biospecimen repository of LFS-related for translational etiologic and outcomes research
Secondary Objectives
-To evaluate specific tumor characteristics including histologies eg leukemia types brain tumor types etc of cancers
diagnosed in individuals with LFS or LFL
-To evaluate the potential effect of therapeutic radiation and radiation exposure from diagnosticscreening imaging studies on
cancer risk
To provide education cancer risk assessment and risk management recommendations for study participants
To collect clinical data related to the treatment of LFS-related cancers so that outcome and survival may be evaluated
Endpoints Primary Endpoint
-Occurrence of cancer in individuals and families with LFS or LFL
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 11-C-0255 | None | None | None |