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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT04431024
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
30 Years - 120 Years
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Mar 30, 2021
Status verified
Jun 2026
Primary completion
Jun 30, 2038
Completion
Jun 30, 2038

Study Design

Enrollment
300 participants (estimated)

Arms

  • Arm: Cancer patients
    Individuals with history of cancer and detected or suspected germline mutation in BAP1 TPDS
  • Arm: Relatives of cancer patients
    First- or second-degree relatives of a cancer patient (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)

Primary Outcome Measure

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 [ Time Frame: annual or biennial follow-up, 5 years interim analysis ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
888-624-1937

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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