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Recruiting No phase listed Observational Accepts healthy volunteers

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

ClinicalTrials.gov ID: NCT04792463

Public ClinicalTrials.gov record NCT04792463. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Sep 6, 2026, 6:23 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID
NCT04792463
Recruitment status
Recruiting
Study type
Observational
Phase
Not listed
Lead sponsor
Mohamed Abdel-Rahman
Other
Enrollment
500 participants

Conditions and interventions

Eligibility (public fields only)

Age range
Not listed
Sex
All
Healthy volunteers
Accepts healthy volunteers

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Mar 2, 2015
Primary completion
Jun 30, 2026
Completion
Jun 30, 2026
Last update posted
Mar 8, 2026

2015 – 2026

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
The Ohio State University Wexner Medical Center Columbus Ohio 43210 Recruiting

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT04792463, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Mar 8, 2026 · Synced Sep 6, 2026

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Open the official record

The complete protocol, eligibility criteria, and contact information for NCT04792463 live on ClinicalTrials.gov.

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