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

• Sponsor: National Cancer Institute (NCI)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Study Description

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.

Condition or disease
Mesothelioma; Families

  Show Detailed Description

Study Design

• Study Type: Observational
• Estimated Enrollment: 1000 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes
• Actual Study Start Date: March 13, 2019
• Estimated Primary Completion Date: July 6, 2026
• Estimated Study Completion Date: July 5, 2027

Groups and Cohorts

Group/Cohort
1/Germline positive mesothelioma; Individuals with mesothelioma who have a BAPl or other DNA repair/cancer predispositionmutation regardless of CLIA confirmation
2/CLIA confirmed germline mutation without mesothelioma; Individuals with a CLIA confirmed BAP1 or other DNA repair/cancer predisposition mutation who do not have a diagnosis of mesothelioma

Outcome Measures

Primary Outcome Measures :

1. 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.

Eligibility Criteria

• Ages Eligible for Study: 2 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

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

Criteria

• Inclusion Criteria:

Inclusion Criteria for Genetic Testing:

Cohort 1:

• Subject with pathology confirming a diagnosis of mesothelioma.
• Subject must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion.

OR

-Subject with mesothelioma otherwise eligible for genetic testing in Cohort 2

OR

• Subject must have deleterious germline mutation in another DNA repair/cancer predisposition gene(s). 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.

OR

-Individual with no history of mesothelioma with either:

---A biological first degree relative (living or deceased) with a history of mesothelioma

OR

---A first degree biological relative with a CLIA confirmed germline mutation in BAP1

OR

---A first degree biological relative with mesothelioma and a CLIA confirmed germline mutation in another DNA-repair/cancer predisposition gene.

OR

• A second degree biological relative with mesothelioma and a CLIA confirmed germline mutation in BAP1)

  -Age:

• Greater than or equal to 2 years for subjects with a first degree relative that has a germline mutation in p53

• Greater than or equal to 16 years for all other eligible potential mutations

  • All participants or their legally authorized representatives (LARs) must understand and be willing to sign a written informed consent

Inclusion Criteria for Surveillance:

• Genetic testing criteria for respective cohorts must be met
• Subjects in Cohort 1 may be enrolled with positive results for germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) regardless of CLIA confirmation
• Subjects in Cohort 2 must have CLIA confirmed germline BAP1 mutation or another DNA repair/cancer predisposition gene(s)

Contacts and Locations

Contacts

Contact: Maria Agra; (240) 858-3152; mariagracia.agra@nih.gov

Locations

United States, Maryland

National Institutes of Health Clinical Center; Recruiting

Bethesda, Maryland, United States, 20892

Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office 888-624-1937

Sponsors and Collaborators

National Cancer Institute (NCI)

Investigators

• Principal Investigator: Raffit Hassan, M.D.; National Cancer Institute (NCI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

• Responsible Party: National Cancer Institute (NCI)
• ClinicalTrials.gov Identifier: NCT03830229 History of Changes
• Other Study ID Numbers: 190049; 19-C-0049
• First Posted: February 5, 2019
• Last Update Posted: June 10, 2019
• Last Verified: June 5, 2019

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):

DNA Repair Genes

Additional relevant MeSH terms:

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