BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma | NCT01925599

Studies
BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

NCT01925599

Sponsor

Amy C Schefler, MD

Status

Unknown status

Last Update Posted

Mar 26, 2021Actual

Enrollment

133Actual

Phase

Not provided

Conditions

Choroidal Nevi, Uveal Melanoma

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2021

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Active, not recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 2013

Primary Completion Date

Jan 2022Estimated

Completion Date

Jan 2022Estimated

First Submitted Date

Aug 15, 2013

First Submission Date that Met QC Criteria

Aug 15, 2013

First Posted Date

Aug 20, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 24, 2021

Last Update Posted Date

Mar 26, 2021Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Amy C Schefler, MD, Director of Ophthalmic Oncology, Greater Houston Retina ResearchSponsor-Investigator

Lead Sponsor

Amy C Schefler, MDOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

133Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi		1 Year

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

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

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Amy C. Schefler, MD	Retina Consultants Houston	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Retina Consultants of Houston		Houston	Texas	77030	United States
Retina Consultants of Houston

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
21704381	Background	Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology. 2011 Sep;118(9):1881-5. doi: 10.1016/j.ophtha.2011.01.040. Epub 2011 Jun 24.
16154197	Background	Singh AD, Kalyani P, Topham A. Estimating the risk of malignant transformation of a choroidal nevus. Ophthalmology. 2005 Oct;112(10):1784-9. doi: 10.1016/j.ophtha.2005.06.011.

ID	Term
D000098943	Uveal Melanoma
D009506	Nevus

ID	Term
D008545	Melanoma
D018358	Neuroendocrine Tumors
D017599	Neuroectodermal Tumors
D009373	Neoplasms, Germ Cell and Embryonal