Choroidal Nevi, Uveal MelanomaNCT01925599
BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma
An observational study of Choroidal Nevi, Uveal Melanoma, run by Amy C Schefler, MD at 3 sites in United States.
Trial 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 more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Choroidal Nevi, Uveal Melanoma
- How many people
- 133 participants
- Where
- 3 sitesUnited States
- Study dates
- Jul 2013to Jan 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients age > 18 years, diagnosed with choroidal nevi or uveal melanoma
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Retina Consultants of Houston
Houston, Texas, 77030
Retina Consultants of Houston
Katy, Texas, 77494
Retina Consultants of Houston
The Woodlands, Texas, 77384
About this study
Official title: Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
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.
- Conditions
- Choroidal Nevi, Uveal Melanoma
- Keywords
- Nevus, Choroidal Melanoma, BAP1 mutation
- Medical subject headings
- Uveal Melanoma, Nevus
What is being measured
The primary outcome is the main question the study is designed to answer.
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
Measured: 1 Year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Aug 2013 (estimated)
- Study startJul 2013
- Primary completionJan 2022 (estimated)
- Study completionJan 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Choroidal Nevi, Uveal MelanomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 133 participants (actual)
Sponsor and investigators
- Lead sponsor
- Amy C Schefler, MD
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Amy C Schefler, MD, Greater Houston Retina Research
- Investigators
- Amy C. Schefler, MD, Principal investigator, Retina Consultants Houston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01925599
- Sponsor's protocol ID
- BAP101
- Status last verified
- Mar 2021
- First submitted
- 15 Aug 2013
- Last updated
- 26 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
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 21704381Singh 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 16154197Jensen 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 10546591Ventii 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 18757409Matatall 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 23915344Abdel-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
Study at a glance
From the registry record, last updated by the sponsor on 26 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
- ClinicalTrials.gov ID
- NCT01925599
- Acronym / sponsor ID
- BAP101
- Conditions
- Choroidal Nevi, Uveal Melanoma
- Keywords
- Nevus, Choroidal Melanoma, BAP1 mutation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 133 participants (actual)
- Lead sponsor
- Amy C Schefler, MDUniversity, hospital or other
- Study start
- Jul 2013
- Primary completion
- Jan 2022 (estimated)
- Study completion
- Jan 2022 (estimated)
- First posted
- 20 Aug 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients age > 18 years, diagnosed with choroidal nevi or uveal melanoma
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi
Time frame: 1 Year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Mar 2021.
- Background: PubMed 21704381Singh 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.
- Background: PubMed 16154197Singh 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.
- Background: PubMed 10546591Jensen 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.
- Background: PubMed 18757409Ventii 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.
- Background: PubMed 23915344Matatall 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.
- Background: PubMed 21941004Abdel-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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Amy C. Schefler, MD principal investigator
Retina Consultants Houston
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Choroidal Nevi, Uveal Melanoma, run by Amy C Schefler, MD at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 26 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Examine the rate of germline BAP1 mutations in young patients, diagnosed with choroidal nevi (time frame: 1 Year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01925599, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Mar 2021.