BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

• Conditions: Choroidal Nevi, Uveal Melanoma

• Registration Number: NCT01925599
• Lead Sponsor: Amy C Schefler, MD

Brief Summary

The BAP1 trial will examine the blood of patients diagnosed with choroidal nevi or uveal melanoma for a germline BAP1 mutation and other genetic markers associated with developing malignancy as well as additional sequencing of the uveal melanoma genome.

Detailed Description

A germline BAP1 mutation predisposes a person to developing uveal melanoma and other cancers. If a mutation is discovered, it changes the potential approach to managing the nevus. In the presence of a known genomic change associated with aggressive disease, closer follow up and more aggressive treatment could preserve the patient's vision and prevent micrometastatic spread. This new screening technique will be able to extend the length and quality of life of patients with more frequent targeted cancer screens.

Study Timeline

• Study Start: 2013-07
• Study First Submitted: 2013-08-15
• Study First Submitted QC: 2013-08-15
• Study First Posted: 2013-08-20
• Status Verified: 2021-03
• Last Update Submitted: 2021-03-24
• Last Update Posted: 2021-03-26
• Primary Completion: 2022-01
• Study Completion: 2022-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 133

Inclusion Criteria

any person with choroidal nevi

• Willingness to provide signed informed consent
• Age > 18 years
• Diagnosis of choroidal nevi or uveal melanoma

Threre are no exclusionary criteria for this study.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi	1 Year

Trial Locations

Locations (1)

Retina Consultants of Houston; 🇺🇸 The Woodlands, Texas, United States