NCT01773655

Brief Summary

The goal of this protocol is to determine the prevalence of somatic and germline mutations in BAP1 (BRCA associated protein-1) among patients with mesothelioma , choroidal nevus, primary uveal melanoma (UM), or metastatic UM seen at our institution.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
196

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2013

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2013

Completed
17 days until next milestone

First Submitted

Initial submission to the registry

January 18, 2013

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 23, 2013

Completed
7.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2020

Completed
Last Updated

July 1, 2020

Status Verified

June 1, 2020

Enrollment Period

7.5 years

First QC Date

January 18, 2013

Last Update Submit

June 30, 2020

Conditions

Malignant Pleural Mesothelioma (MPM)Choroidal NevusPrimary Uveal Melanoma (UM)Metastatic Uveal Melanoma (UM)Renal Cell CarcinomaCholangiocarcinoma

Keywords

somaticgermlinemutationsBAP1 (BRCA associated protein-1)12-235

Outcome Measures

Primary Outcomes (1)

  • determine the prevalence of germline BAP1 mutations

    Prevalence will be estimated as the proportion of all specimens who tested positive for mutation, and reported along with the corresponding exact 95% confidence intervals.

    2 years

Secondary Outcomes (1)

  • prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.

    2 years

Study Arms (1)

tissue

This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.

Other: tumor specimens

Interventions

tumor specimensOTHER

All consenting patients (Consent 1) will participate in an anonymized assessment of the prevalence of germline BAP1 mutations. Available tumor specimens from patients with MPM and metastatic uveal melanoma will be tested for BAP1 mutation. Patients whose tumors harbor BAP1 mutations and/or meet the criteria for germline mutation specified in 2.2.2 will be approached for identified germline BAP1 testing after appropriate pre-test counseling (Consent 2). Patients who, through identified testing, are found to have germline BAP1 mutations will be asked to invite their relatives to participate in germline testing (Consent 3). First-degree relatives and any relatives with a malignancy will be prioritized. Expanding testing to family members of patients with BAP1 germline mutations is essential to delineate the penetrance and describe the various manifestations of this new cancer predisposition syndrome.

tissue

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

MSKCC's clinics

You may qualify if:

  • All consents:
  • \> or = to 18 years of age
  • Ability to provide informed consent
  • Consent 1:
  • Mesothelioma
  • Histologically proven diagnosis of Mesothelioma OR Choroidal nevus
  • Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography OR Primary uveal melanoma
  • Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography
  • Consent 2:
  • Mesothelioma
  • Histologically proven diagnosis of Mesothelioma AND
  • BAP1 mutation or loss of expression identified in tumor sample
  • OR one of the following:
  • Age\<50 at diagnosis
  • No history of asbestos exposure
  • +20 more criteria

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Memorial Sloan Kettering Westchester

Harrison, New York, 10604, United States

Location

Memorial Sloan Kettering Cancer Center

New York, New York, 10065, United States

Location

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

tissue specimens blood or saliva sample

MeSH Terms

Conditions

Mesothelioma, MalignantUveal MelanomaCarcinoma, Renal CellCholangiocarcinoma

Condition Hierarchy (Ancestors)

MesotheliomaAdenomaNeoplasms, Glandular and EpithelialNeoplasms by Histologic TypeNeoplasmsNeoplasms, MesothelialLung NeoplasmsRespiratory Tract NeoplasmsThoracic NeoplasmsNeoplasms by SitePleural NeoplasmsLung DiseasesRespiratory Tract DiseasesMelanomaNeuroendocrine TumorsNeuroectodermal TumorsNeoplasms, Germ Cell and EmbryonalNeoplasms, Nerve TissueNevi and MelanomasUveal NeoplasmsEye NeoplasmsEye DiseasesUveal DiseasesAdenocarcinomaCarcinomaKidney NeoplasmsUrologic NeoplasmsUrogenital NeoplasmsFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesKidney DiseasesUrologic DiseasesMale Urogenital Diseases

Study Officials

  • Marjorie Zauderer, MD

    Memorial Sloan Kettering Cancer Center

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 18, 2013

First Posted

January 23, 2013

Study Start

January 1, 2013

Primary Completion

June 30, 2020

Study Completion

June 30, 2020

Last Updated

July 1, 2020

Record last verified: 2020-06

Locations

US(2)