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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04792463
Other study ID # 2014C0072
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date March 3, 2015
Est. completion date July 1, 2026

Study information

Verified date October 2023
Source Ohio State University
Contact Mohamed H Abdel-Rahman, MD, PhD
Phone 614-292-1396
Email Mohamed.Abdel-Rahman@osumc.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1. Our study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. Because the vast majority of UM develop in pre-existing nevi, characterization of individuals at high risk for development of UM will allow closer screening and earlier intervention which would improve the treatment outcome not only for retaining vision but also for overall survival. Similarly in patients with germline BAP1 mutation CM develops in premalignant atypical melanocytic lesions and careful follow up of these patients will improve the outcome of their disease. In addition this study could have impact on the management of patients with personal and/or family history of several other cancers reported in patients with germline BAP1 mutation such as mesothelioma, renal cell carcinoma, cholangiocarcinoma, hepatocellular carcinoma, meningioma and basal cell carcinoma.


Description:

BAP1 (BRCA1-associated protein-1), is a deubiquitinating enzyme with a ubiquitin carboxy-terminal hydrolase function that has been suggested to be a tumor suppressor gene with a role in cell proliferation and growth inhibition. Recently germline mutations in BAP1 have been identified by our group and others in families with hereditary cancers. However, the clinical spectrum of cancers in patients with germline BAP1 is still not clear. The association of germline BAP1 mutations with increased risks for uveal melanoma (UM), mesothelioma, cutaneous melanoma (CM), renal cell carcinoma (RCC) and BAP1-inactivated melanocytic tumors is fairly well established. However, several other cancers have been reported in these patients and their family members including cholangiocarcinoma, hepatocellular carcinoma, meningioma, basal cell carcinoma and other internal malignancies. Identification of the clinical phenotype of BAP1-TPDS is important for proper counseling and management of patients.


Recruitment information / eligibility

Status Recruiting
Enrollment 500
Est. completion date July 1, 2026
Est. primary completion date July 1, 2026
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: Patients who meet any of the following criteria: 1. Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma. 2. Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome. 3. Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant. 4. Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance. 5. At risk relatives of a patient with documented BAP1 mutation. Exclusion Criteria: - Study material including consent forms are currently only available in English so non-English speaking subjects are excluding

Study Design


Locations

Country Name City State
United States The Ohio State University Wexner Medical Center Columbus Ohio

Sponsors (1)

Lead Sponsor Collaborator
Mohamed Abdel-Rahman

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Prevalence of germline BAP1 variants in the unselected general population of cancer patients Frequency of germline BAP1 pathogenic/likely pathogenic variants in different cancers 5 years
Primary Clinical phenotypes (this includes premalignant lesions, tumor type and age of onset) in at risk blood-line family members of the patients Questionnaire and chart review of the clinical phenotype 5 years
Secondary Questionnaire to assess environmental risk factors modifying cancer risk in patients Measurement used: questionnaire for various environmental risk factors 10 years
Secondary Genotyping to assess genetic risk factors modifying risk of cancer Genotyping for genetic variants that could modify the risk of cancer in subjects. 10 years
Secondary Disease outcome (response to treatment, prognosis including prognostic markers) Chart review of disease outcome 10 years
Secondary Tumor pathology and genomics (including tumor grade, stage, somatic genomic alterations) Review of pathology and study of genomics alterations in tumors 10 years
Secondary Assessment of disease penetrance and life time risk estimate Statistical assessment of disease penetrance and life time risk estimates of various cancers 10 years
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