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NCT03830229
Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1
Conditions: Mesothelioma, Families
Sex: All
Ages: 2 Years – N/A
Healthy volunteers: No
Enrollment: 1000
Sponsor: National Cancer Institute (NCI)
Location: National Institutes of Health Clinical Center Bethesda Maryland
Summary
Background:
-A gene provides instructions to the body. Mutated genes can sometimes cause cancer. Germline mutations are those people are born with. These mutations in the BAP1 gene can cause mesothelioma and other cancers. Researchers want to study people with germline mutations of BAP1 and other genes known to cause cancer.
Objective:
-To learn how cancer might develop in people with BAP1 mutations.
Eligibility:
-People ages 2 and older with a germline mutation in BAP1
Design:
* Participants will be screened with:
* Medical and family history
* Saliva test
* Participants with mesothelioma will be in the NIH Group. Participants without mesothelioma can choose to be in either the NIH Group or the Remote Group.
* Remote Group participants will have a medical and family history by phone. If they have tumor tissue from a previous surgery, it will be tested. They will be contacted once a year by phone.
* NIH Group participants will have a baseline visit. This can take up to 4 days. They may have to stay in the area overnight. The visit will include:
* Physical exam
* Evaluation of tumor tissue if available
* Optional tumor biopsy
* Blood tests
* Scans: A machine will take pictures of the body.
* Photographs of skin lesions or other issues
* Skin exam
* Eye exam
* NIH Group participants will have visits once or twice a year. These will include a physical exam, lab tests, scans, and other tests as needed.
* Participants who have a confirmed mutation will be asked to contact any relatives who may be at risk and ask them about joining the study.
Eligibility Criteria
* Inclusion Criteria for Genetic Testing:
Cohort 1:
* Participant with pathology confirming a diagnosis of mesothelioma.
* Participant must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion.
OR
* Participant with mesothelioma otherwise eligible for genetic testing in Cohort 2
* Age \>= 2 years
Cohort 2:
-Individual with a germline BAP1 mutation who does not have a history of mesothelioma (other cancers are allowed). Results from either research or clinical analyses are sufficient for this criterion.
OR
-Individual with no history of mesothelioma with:
--A biological first degree relative (living or deceased) with a history of mesothelioma
OR
--A first degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1
OR
--A second degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1 if relevant first degree relative is deceased or unavailable for testing,
OR
--A second degree biological relative with mesothelioma and a CLIA (or equivalent) confirmed germline mutation in BAP1
-Age \>= 2 years
All participants must understand and be willing to sign a written informed consent
Exclusion Criteria for Genetic Testing
None
Inclusion Criteria for Surveillance:
Inclusion Criteria for Surveillance
* Genetic testing criteria including age restrictions for respective cohorts must be met.
* Participants in Cohort 1 may be enrolled with positive results for germline BAP1 mutation regardless of CLIA (or equivalent) confirmation
* Participants in Cohort 2:
* must have CLIA (or equivalent) confirmed germline BAP1 mutation
Exclusion Criteria for Surveillance
None
Source: ClinicalTrials.gov (NCT03830229). StuddyBuddy aggregates publicly available trial information.