ClinicalTrials.gg
Status unknownNCT01925599Updated Mar 26, 2021

BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

An observational study in Choroidal Nevi, Uveal Melanoma, sponsored by Amy C Schefler, MD. Status unknown at 3 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2021-03-26.

Sponsored by Amy C Schefler, MD · Observational

The sponsor has not verified this record recently (last verified Mar 2021), so the status shown — last known as Active, not recruiting — may be out of date.
Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
133
Ages
18 Years and older
Sex
All
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Study 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.

Read the 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.

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Conditions studied

  • Choroidal Nevi, Uveal Melanoma

Keywords

  • Nevus
  • Choroidal Melanoma
  • BAP1 mutation
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In context

Uveal Melanoma

281 studies on the registry are indexed under Uveal Melanoma; 50 are open to participants now.

This study's enrollment of 133 is above the median of 100 across 37 observational studies indexed under Uveal Melanoma.

Browse Uveal Melanoma studies →

Lead sponsor

Amy C Schefler, MD is the lead sponsor of 2 studies on the registry; none are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Probability sample

Study population

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

Eligibility criteria

Inclusion Criteria:

any person with choroidal nevi

  • Willingness to provide signed
  • Age > 18 years
  • Diagnosis of choroidal nevi or uveal melanoma

Threre are no exclusionary criteria for this study.

Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

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Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
133 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
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What researchers measure

Primary outcomes

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

    Time frame: 1 Year

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Study locations

3 sites
  • Retina Consultants of Houston
    Houston, Texas 77030, United States
  • Retina Consultants of Houston
    Katy, Texas 77494, United States
  • Retina Consultants of Houston
    The Woodlands, Texas 77384, United States
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References and documents

Publications

  • 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. PubMed 21704381 ↗
  • 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. PubMed 16154197 ↗
  • Jensen DE, Rauscher FJ 3rd. Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1. Cancer Lett. 1999 Sep;143 Suppl 1:S13-7. doi: 10.1016/s0304-3835(99)90004-6. No abstract available. PubMed 10546591 ↗
  • Ventii KH, Devi NS, Friedrich KL, Chernova TA, Tighiouart M, Van Meir EG, Wilkinson KD. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res. 2008 Sep 1;68(17):6953-62. doi: 10.1158/0008-5472.CAN-08-0365. PubMed 18757409 ↗
  • Matatall KA, Agapova OA, Onken MD, Worley LA, Bowcock AM, Harbour JW. BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. BMC Cancer. 2013 Aug 5;13:371. doi: 10.1186/1471-2407-13-371. PubMed 23915344 ↗
  • Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet. 2011 Dec;48(12):856-9. doi: 10.1136/jmedgenet-2011-100156. Epub 2011 Sep 22. PubMed 21941004 ↗
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Timeline

Tracking since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of Jul 2013, a primary completion of Jan 2022 and a completion of Jan 2022. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Aug 15, 2013
First posted
Aug 20, 2013
Start
Jul 2013
Primary completionEst.
Jan 2022
CompletionEst.
Jan 2022
Last update
Mar 26, 2021
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Mar 26, 2021, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT01925599
Lead sponsor
Amy C Schefler, MD
Responsible party
Amy C Schefler, MD (Director of Ophthalmic Oncology, Greater Houston Retina Research) — Sponsor-investigator
First posted
Aug 20, 2013
Start date
Jul 2013
Primary completion
Jan 2022 (estimated)
Completion
Jan 2022 (estimated)
Last update
Mar 26, 2021

Study contacts

Amy C. Schefler, MD
principal investigator · Retina Consultants Houston

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Mar 2021. You cannot join it, but the record below documents what was studied.

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