Monitoring for early detection of mesothelioma in patients with BAP1 mutations

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

This study is testing if advanced imaging and blood tests can help find mesothelioma early in people with BAP1 mutations who are at higher risk for this cancer.

Quick facts

• Study type: Observational
• Enrollment: 800 (estimated)
• Ages: 30 Years to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT04431024 on ClinicalTrials.gov

What this trial studies

This study aims to evaluate the effectiveness of high-resolution dual energy computed tomographic imaging and noninvasive liquid biopsies for the early detection of mesotheliomas in individuals with BAP1 tumor predisposition syndrome. Participants, aged 30 and older, will undergo genetic testing to confirm the presence of BAP1 mutations and will be monitored over time through various assessments, including medical history reviews and physical exams. The study seeks to establish better surveillance protocols for those at high risk of developing mesothelioma and other cancers due to their genetic predisposition.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals aged 30 and older with known or suspected germline BAP1 mutations or first- or second-degree relatives of affected individuals.

Not a fit: Patients without a history of malignancy or those under the age of 30 may not receive benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved early detection and monitoring strategies for patients at risk of mesothelioma due to BAP1 mutations.

How similar studies have performed: While there is ongoing research into genetic predispositions for cancer, this specific approach combining imaging and liquid biopsies for BAP1 mutations is relatively novel.

Eligibility criteria

* ELIGIBILITY CRITERIA:

Inclusion Criteria for Genetic Testing

-Eligible participants include:

--Individuals with a history of any malignancy with known or suspected germline mutations involving BAP1

OR

--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.

Inclusion Criteria for Surveillance

* 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."

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: David S Schrump, M.D. — National Cancer Institute (NCI)
• Study coordinator: Rebecca B Alexander

Conditions Familial Cancer; BRCA1-Associated Protein-1 Mutations; Tumor Predisposition Syndrome; Mesothelioma; Germline Mutation in the BAP1 Gene; BRCA1-Associated Protein-1; Genetics; Familial Background