Last reviewed · How we verify

NCT04792463

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Recruiting now Last updated 9 March 2026
What this trial tests

trial in Uveal Melanoma in 500 participants. Currently enrolling.

Timeline
3 March 2015
Primary endpoint
1 July 2026
1 July 2026

Quick facts

Lead sponsorMohamed Abdel-Rahman
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment500
Start date3 March 2015
Primary completion1 July 2026
Estimated completion1 July 2026
Sites1 location across United States

Conditions studied

Sponsor

Mohamed Abdel-Rahman

Who can join

Eligibility, any sex, with Uveal Melanoma or Cutaneous Melanoma. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care.
    Shahani SA, Marcotte EL. · · 2022 · cited 11× · PMID 36225340 · DOI 10.3389/fped.2022.1011873
  2. Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome.
    Godwin K, McElroy J, Senter L, Byrne L, et al · · 2026 · PMID 41843333 · DOI 10.1007/s10689-026-00541-8
  3. High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.
    Ramsey KA, Byrne L, Taylor OB, Soliman A, et al · · 2026 · PMID 41670784 · DOI 10.1007/s11060-026-05445-2

Verify or expand the search:

Other recruiting trials for Uveal Melanoma

Currently open trials in the same condition.

Verify against primary sources

Data sources for this page

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04792463.

Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing