Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Enrollment
- 133
- Locations
- 1
- Primary Endpoint
- Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
Study Overview
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 Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
Time Frame: 1 Year
Secondary Outcomes
No secondary outcomes reported
Investigators
Amy C Schefler, MD
Director of Ophthalmic Oncology
Greater Houston Retina Research