Recruiting

Observational Study

Sponsor:

Mohamed Abdel-Rahman

Code:

NCT04792463

Conditions

Uveal Melanoma

Cutaneous Melanoma

BAP1 Gene Mutation

Renal Cell Carcinoma

Mesothelioma

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief 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.

Conditions

Uveal Melanoma

Cutaneous Melanoma

BAP1 Gene Mutation

Renal Cell Carcinoma

Mesothelioma

Study ID

NCT04792463

Start date

Mar 3, 2015

Status verified date

Mar, 2026

Completion date

Jul 1, 2026

Anticipated

Primary completion date

Jul 1, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with personal and/or family history suggestive of hereditary BAP1

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, hepatocellular carcinoma and meningioma

Pathogenic, likely pathogenic variants in BAP1 and variants of uncertain significance

Affected and unaffected individuals with pathogenic or likely pathogenic variant in BAP1 and their family members

Patients with personal family history of any of the BAP1 associated cancer and a variant of uncertain significance of BAP1

Primary outcome measure

  • Prevalence of germline BAP1 variants in the unselected general population of cancer patients [ Time Frame: 5 years ]
  • Clinical phenotypes (this includes premalignant lesions, tumor type and age of onset) in at risk blood-line family members of the patients [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Mohamed H Abdel-Rahman, MD, PhD

614-292-1396Mohamed.Abdel-Rahman@osumc.edu

Locations

The Ohio State University Wexner Medical Center

Recruiting

Columbus, Ohio, United States, 43210

Contacts

Mohamed H Abdel-Rahman, MD, PhD

614-292-1396Mohamed.Abdel-Rahman@osumc.edu

Lindsey Byrne, MS, CGC

614-293-3159lindsey.byrne@osumc.edu

More Information

Sponsor

Mohamed Abdel-Rahman

Last update posted

Mar 9, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-27. This information was provided to ClinicalTrials.gov by Mohamed Abdel-Rahman on 2026-03-09. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.