Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome

NCT04431024 | Recruiting

• 2 other identifiers: 20010620-C-0106
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring. Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers. Researchers want to follow people with these mutations to learn more. Objective: To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time. Eligibility: People age 30 and older who are suspected to have a BAP1 germline mutation. Design: Participants will be screened with a personal and family medical history. Their medical records may be reviewed. They will give a blood or saliva sample to test for a BAP1 mutation. They will get genetic counseling. To take part in this study, participants will enroll on 2 to 3 other protocols. Participants will have a physical exam. They may have a tumor biopsy. They will give blood and urine samples. They will have skin and eye exams. Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas. For this, a small camera is inserted into the chest through a small incision. Some participants will have laparoscopy to examine the organs inside the abdomen. For this, a small camera is inserted into the abdomen through a small incision. Participants will have imaging scans of the chest, abdomen, and pelvis. They may have brain scans. Participants will visit the NIH once a year for follow-up exams. Participation lasts indefinitely....

Conditions

BRCA1-Associated Protein-1 (BAP1) Mutations; Mesothelioma; Familial Cancer; Tumor Predisposition Syndrome (TPDS)

Keywords

Germline Mutation in the BAP1 Gene; BRCA1-Associated Protein-1; Genetics; Familial Background; Natural History; DECT

Outcome Measures

Primary Outcomes (1)

• Prospectively gather information related to the use of dual energy computed tomographic imaging (DECT) together with minimally invasive surveillance for early detection of mesotheliomas in patients with BAP1 TPDS

  Documentation of the counts, incidence, and frequencies of cancers from dual energy computed tomographic imaging and minimally invasive surveillance results will be analyzed for statistical analysis for the early detection of mesotheliomas in patients with BAP1 TPDS.

  annual or biennial follow-up, 5 years interim analysis

Secondary Outcomes (2)

• To characterize the epigenetic features of mesotheliomas associated with germline mutations in BAP1

  at clinical visits, annual or bi-annual follow-up

• To investigate the biological mechanisms associated with prolonged survival in participants with mesothelioma that carry germline BAP1 mutations

  once during follow-up per participant agreement

Study Arms (2)

Cancer patients

Individuals with history of cancer and detected or suspected germline mutation in BAP1 TPDS

Relatives of cancer patients

First- or second-degree relatives of a cancer patient (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)

Eligibility Criteria

• Age: 30 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals, and family members of the individual, who fulfill clinical criteria of a history of cancer and detected or suspected germline mutation in BAP1 TPDS.

You may qualify if:

• Eligible participants include:
• Individuals with a history of any malignancy with known or suspected germline mutations involving BAP1
• First- or second-degree relatives of patients (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS).
• Age greater than or equal to 30 years.
• All participants must understand and be willing to sign a written informed consent document.
• Eligible participants include those who completed step 1 genetic testing with study-confirmed BAP1 or other germline TPDS mutation.
• Completed co-enrollment on protocol 06C0014, "Prospective Evaluation of Genetic and Epigenetic Alterations in Patients with Thoracic Malignancies."

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

• David S Schrump, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Deneise C Francis, R.N.

CONTACT

(240) 858-3974; deneise.francis@nih.gov

David S Schrump, M.D.

CONTACT

(240) 760-6239; david_schrump@nih.gov

Study Design

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

Study Record Dates

• First Submitted: June 12, 2020
• First Posted: June 16, 2020
• Study Start: March 30, 2021
• Primary Completion (Estimated): June 30, 2038
• Study Completion (Estimated): June 30, 2038
• Last Updated: April 1, 2026

Record last verified: 2026-02-23

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
• Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI. @@@@@@Genomic data are made available via dbGaP through requests to the data custodians.

Locations

US (1)