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NCT04792463
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
trial in Uveal Melanoma in 500 participants. Currently enrolling.
1 July 2026
Quick facts
| Lead sponsor | Mohamed Abdel-Rahman |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 500 |
| Start date | 3 March 2015 |
| Primary completion | 1 July 2026 |
| Estimated completion | 1 July 2026 |
| Sites | 1 location across United States |
Conditions studied
- Uveal Melanoma — all drugs for Uveal Melanoma →
- Cutaneous Melanoma — all drugs for Cutaneous Melanoma →
- BAP1 Gene Mutation — all drugs for BAP1 Gene Mutation →
- Renal Cell Carcinoma — all drugs for Renal Cell Carcinoma →
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):
-
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 -
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 -
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:
- PubMed search for NCT04792463
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Uveal Melanoma
Currently open trials in the same condition.
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- NCT06070012 — Tebentafusp in HLA-A*0201 Positive Previously Untreated Metastatic Uveal Melanoma · Phase 2 · recruiting
- NCT06932757 — Adjuvant Quisinostat in High-Risk Uveal Melanoma · Phase 2 · recruiting
- NCT06805825 — A Study of the c-Kit Specific Antibody-Drug Conjugate NN3201 for Advanced and/or Metastatic Solid Tumors Known to Expres · Phase 1 · recruiting
- NCT06519266 — PHP in Combination With IPI1/NIVO3 Compared to IPI3/NIVO1 Only in Patients With Uveal Melanoma Liver Metastases · Phase 3 · recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT04792463 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Mohamed Abdel-Rahman
- Last refreshed: 9 March 2026
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.
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