Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

NCT03830229 | Recruiting

• 2 other identifiers: 19004919-C-0049
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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 certain gene mutations. Eligibility:
• People ages 2 and older with a germline mutation in BAP1 or another gene that might cause cancer 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

Mesothelioma; Families

Keywords

DNA Repair Genes; Natural History

Outcome Measures

Primary Outcomes (1)

• 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.

  ongoing

Study Arms (2)

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

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Persons with mesothelioma and family members as well as individuals with CLIA documented germline BAP-1 and other DNA repair/cancer predisposition mutations

You may qualify if:

• 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.
• Participant with mesothelioma otherwise eligible for genetic testing in Cohort 2
• Participant must have deleterious germline mutation in another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel. Results from either research or clinical analyses are sufficient for this criterion.
• Age greater than or equal to 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.
• Individual with no history of mesothelioma with:
• A biological first degree relative (living or deceased) with a history of mesothelioma
• A first degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1
• 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,
• A first degree biological relative with mesothelioma and a CLIA (or equivalent) confirmed germline mutation in another DNA-repair/cancer predisposition gene that is listed on a commercially available, cancer-associated common or customized gene panel
• A second degree biological relative with mesothelioma and a CLIA (or equivalent) confirmed germline mutation in BAP1
• Age:

You may not qualify if:

• None
• 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 or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel regardless of CLIA (or equivalent) confirmation
• Participants in Cohort 2 must have CLIA (or equivalent) confirmed germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel
• if germline status negative, have a biological relative that is enrolled for surveillance
• None

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Mesothelioma

Condition Hierarchy (Ancestors)

Adenoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Mesothelial

Study Officials

• Raffit Hassan, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maria Gracia L Agra, R.N.

CONTACT

(240) 858-3152; mariagracia.agra@nih.gov

Raffit Hassan, M.D.

CONTACT

(240) 760-6232; rh276q@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 2, 2019
• First Posted: February 5, 2019
• Study Start: March 13, 2019
• Primary Completion (Estimated): July 6, 2026
• Study Completion (Estimated): July 5, 2027
• Last Updated: December 19, 2025

Record last verified: 2025-12-17

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Clinical data in BTRIS will be shared throughout the course of the study and indefinitely with the permission of the investigator.@@@@@@Genomic data will be shared from the time of upload to dbGaP.
• Access Criteria: Clinical IPD will be shared through the BTRIS database for open ended analysis. All BTRIS subscribers, generally limited to the NIH Clinical Center, may request data.@@@@@@Genomic IPD will be shared through dbGaP, per rules of the database, for purposes of genomic analysis.

Locations

US (1)