BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

Sponsor

Amy C Schefler, MD (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT01925599

Collaborator

(none)

133

Enrollment

Locations

102

Duration (Months)

44.3

Patients Per Site

0.4

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Choroidal Nevi, Uveal Melanoma

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

Actual Enrollment :

133 participants

Observational Model:

Case-Only

Time Perspective:

Prospective

Official Title:

Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma

Study Start Date :

Jul 1, 2013

Anticipated Primary Completion Date :

Jan 1, 2022

Anticipated Study Completion Date :

Jan 1, 2022

Outcome Measures

Primary Outcome Measures

Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi [1 Year]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Retina Consultants of Houston	Houston	Texas	United States	77030
2	Retina Consultants of Houston	Katy	Texas	United States	77494
3	Retina Consultants of Houston	The Woodlands	Texas	United States	77384