Clinical trial · Observational
Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Families | — | UNRESOLVED | — |
| Mesothelioma | Malignant Mesothelioma | CURATED_EXACT | 0.92 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (2)
- label
- 1/Germline positive mesothelioma
- description
- Individuals with mesothelioma who have a BAP1 or other DNA repair/cancer predisposition mutation regardless of CLIA (or equivalent) confirmation
- label
- 2/CLIA confirmed germline mutation without mesothelioma
- description
- Individuals with a CLIA (or equivalent) confirmed BAP1 or other DNA repair/cancer predisposition mutation who do not have a diagnosis of mesothelioma
Primary outcomes (1)
- measure
- Incidence and frequencies of Cancers
- timeFrame
- ongoing
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Years
- Maximum age
- 120 Years
Show eligibility criteria text
* 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
References
Publications (0)
Data not yet available