BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2016 by Greater Houston Retina Research
Sponsor:
Information provided by (Responsible Party):
Amy C Schefler, MD, Greater Houston Retina Research
ClinicalTrials.gov Identifier:
NCT01925599
First received: August 15, 2013
Last updated: February 3, 2016
Last verified: February 2016
  Purpose
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
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: 100
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 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.
  Eligibility

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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
Criteria

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 ClinicalTrials.gov identifier: NCT01925599

Contacts
Contact: Amy C Schefler, MD 713-524-3434 acsmd@houstonretina.com
Contact: Cassie Cone, BA 713-524-3434 ccone@houstonretina.com

Locations
United States, Texas
Retina Consultants of Houston Recruiting
Houston, Texas, United States, 77030
Contact: Cassie Cone, BA    713-524-3434    cassandra.cone@houstonretina.com   
Principal Investigator: Amy C Schefler, MD         
Retina Consultants of Houston Recruiting
Katy, Texas, United States, 77494
Contact: Cassie Cone, BA    713-524-3434    ccone@houstonretina.com   
Principal Investigator: Amy Schefler, MD         
Retina Consultants of Houston Recruiting
The Woodlands, Texas, United States, 77384
Contact: Melisa Bocanegra    713-524-3434    melisa.bocanegra@houstonretina.com   
Principal Investigator: Amy Schefler, MD         
Sponsors and Collaborators
Amy C Schefler, MD
Investigators
Principal Investigator: Amy C. Schefler, MD Retina Consultants Houston
  More Information

Publications:
Responsible Party: Amy C Schefler, MD, Director of Ophthalmic Oncology, Greater Houston Retina Research
ClinicalTrials.gov Identifier: NCT01925599     History of Changes
Other Study ID Numbers: BAP101 
Study First Received: August 15, 2013
Last Updated: February 3, 2016
Health Authority: United States: Institutional Review Board

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

Additional relevant MeSH terms:
Nevus
Nevi and Melanomas
Melanoma
Uveal Neoplasms
Neuroendocrine Tumors
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Neoplasms
Neoplasms, Nerve Tissue
Eye Neoplasms
Neoplasms by Site
Eye Diseases
Uveal Diseases

ClinicalTrials.gov processed this record on July 27, 2016