NCT03830229 · National Cancer Institute (NCI)
Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1
What this study is about
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.
View original scientific description
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.
Primary outcome measures
Incidence and frequencies of Cancers
Time frame: ongoing
Standard exploratory and descriptive measures will be used. Counts, incidence, and frequencies of cancers identified via screening procedures on this trial will be reported, all in the context of an exploratory study with appropriate caveats.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
Where
- Bethesda, Maryland
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Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 9, 2026 · Source of record for eligibility and locations