MesotheliomaNCT03830229
Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1
An observational study of Mesothelioma and Families, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 120 years
- Conditions the study is for
- Mesothelioma, Families
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Mar 2019to 31 Dec 2034
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 120 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Persons with mesothelioma and family members as well as individuals with CLIA documented germline BAP-1.
Who may be able to join
- 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
Show all 23Show fewer
- 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
- 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
Who cannot join
- None
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office, 888-624-1937
About this study
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.
Read more
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.
Read the detailed description
Background:
- BRCA1-Associated Protein-1 (BAP1), a deubiquitinase involved in regulating DNA repair enzymes, is believed to be a prominent mutation in malignant mesothelioma.
- Germline mutations involving BAP1 have been reported in familial studies. These have been associated with a higher likelihood of mesothelioma as well as several other malignancies, including uveal melanoma, cutaneous melanomas, renal cell carcinoma and cholangiocarcinoma.
- BAP1 mutations, if found, have a high probability of detecting multiple malignancies in family members.
Objectives:
-To characterize the natural and clinical history of patients with malignant mesothelioma, their family members and individuals who have germline mutations in BAP1
Eligibility for Genetic Testing:
Cohort 1
-Individual with mesothelioma with deleterious germline mutations in BAP1 (previous testing may have been research or clinical)
OR
- Individual with a diagnosis of mesothelioma who is otherwise eligible for testing on Cohort 2
- Age >= 2
Cohort 2
-Individual with a germline BAP1 mutation who does not have a history of mesothelioma (previous testing may have been research or clinical)
OR
-Individual with no personal history of mesothelioma with:
--a first degree biological 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
Eligibility for Surveillance:
Cohort 1
-No additional criteria
Cohort 2
-Testing performed on study must confirm presence of germline mutation in BAP1
Design:
- Individuals with suspected hereditary predisposition to mesothelioma and their families will be recruited to assess for genetic mutations, and to study the natural history of malignancies occurring in germline BAP1 mutations.
- Screening examinations will be offered to those with germline BAP1 mutations.
- We will determine if there is a relationship between germline mutation and disease phenotype.
- Conditions
- Mesothelioma, Families
- Keywords
- DNA Repair Genes, Natural History
- Medical subject headings
- Mesothelioma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1/Germline positive mesothelioma | Individuals with mesothelioma who have a BAP1 or other DNA repair/cancer predisposition mutation regardless of CLIA (or equivalent) confirmation | |
| 2/CLIA confirmed germline mutation without mesothelioma | Individuals with a CLIA (or equivalent) confirmed BAP1 or other DNA repair/cancer predisposition mutation who do not have a diagnosis of mesothelioma |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence and frequencies of Cancers
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.
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2019
- Study start13 Mar 2019
- Primary completion31 Dec 2032 (estimated)
- Study completion31 Dec 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for MesotheliomaStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Raffit Hassan, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03830229
- Sponsor's protocol ID
- 190049
- Other IDs
- 19-C-0049
- Status last verified
- 13 Oct 2026
- First submitted
- 2 Feb 2019
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All IPD recorded in the medical record will be shared with intramural investigators upon request. In addition all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Publications
Lebensohn A, Ghafoor A, Bloomquist L, Royer MC, Castelo-Soccio L, Karacki K, Hathaway O, Maglo T, Wagner C, Agra MG, Blakely AM, Schrump DS, Hassan R, Cowen EW. Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome. JAMA Dermatol. 2024 Aug 1;160(8):838-845. doi: 10.1001/jamadermatol.2024.1804.
PubMed 38759225