BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2015 by Greater Houston Retina Research
Information provided by (Responsible Party):
Amy C Schefler, MD, Greater Houston Retina Research Identifier:
First received: August 15, 2013
Last updated: March 25, 2015
Last verified: March 2015

BAP1 serum germline, is a simple blood test in patients with nevi or uveal melanoma. This study aims to examine the rate of germline BAP1 mutations in young patients diagnosed with choroidal nevi and uveal melanoma to explore the role for this test as a screening tool in the future in this particular patient population.

Choroidal Nevi, Uveal Melanoma

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma

Resource links provided by NLM:

Further study details as provided by Greater Houston Retina Research:

Primary Outcome Measures:
  • Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi [ Time Frame: 1 Year ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Whole Blood

Estimated Enrollment: 30
Study Start Date: July 2013
Estimated Study Completion Date: January 2017
Estimated Primary Completion Date: January 2017 (Final data collection date for primary outcome measure)
Detailed Description:

A germline BAP1 mutation predisposes a person to developing uveal melanoma and other cancers. If a mutation is discovered, it changes the approach of managing the nevi. A "normal" case of an choroidal nevus involves less frequent follow up visits and in this time, the nevi could grow quickly. Closer follow up and more aggressive treatment could preserve the patient's vision and potentially 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.


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients age > 18 years, diagnosed with choroidal nevi or uveal melanoma


Inclusion Criteria:

any person with choroidal nevi

  • Willingness to provide signed informed consent
  • Age > 18 years
  • Diagnosis of choroidal nevi or uveal melanoma
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01925599

Contact: Amy C Schefler, MD 713-524-3434
Contact: Cassie Cone, BA 713-524-3434

United States, Texas
Retina Consultants of Houston Recruiting
Houston, Texas, United States, 77030
Contact: Cassie Cone, BA    713-524-3434   
Principal Investigator: Amy C Schefler, MD         
Sponsors and Collaborators
Amy C Schefler, MD
Principal Investigator: Amy C. Schefler, MD Retina Consultants of Houston
  More Information

Responsible Party: Amy C Schefler, MD, Director of Ophthalmic Oncology, Greater Houston Retina Research Identifier: NCT01925599     History of Changes
Other Study ID Numbers: BAP101
Study First Received: August 15, 2013
Last Updated: March 25, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Greater Houston Retina Research:
Choroidal Melanoma
BAP1 mutation

Additional relevant MeSH terms:
Nevi and Melanomas
Uveal Neoplasms
Eye Diseases
Eye Neoplasms
Neoplasms by Histologic Type
Neoplasms by Site
Neoplasms, Germ Cell and Embryonal
Neoplasms, Nerve Tissue
Neuroectodermal Tumors
Neuroendocrine Tumors
Uveal Diseases processed this record on October 09, 2015