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Trial record 1 of 1 for:    NCT03830229
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Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

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ClinicalTrials.gov Identifier: NCT03830229
Recruitment Status : Recruiting
First Posted : February 5, 2019
Last Update Posted : July 7, 2022
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Brief Summary:

Background:

-A gene provides instructions to the body. Mutated genes can sometimes cause cancer. Germline mutations are those people are born with. These mutations in the BAP1 gene can cause mesothelioma and other cancers. Researchers want to study people with germline mutations of BAP1 and other genes known to cause cancer.

Objective:

-To learn how cancer might develop in people with certain gene mutations.

Eligibility:

-People ages 2 and older with a germline mutation in BAP1 or another gene that might cause cancer

Design:

  • Participants will be screened with:

    • Medical and family history
    • Saliva test
  • Participants with mesothelioma will be in the NIH Group. Participants without mesothelioma can choose to be in either the NIH Group or the Remote Group.
  • Remote Group participants will have a medical and family history by phone. If they have tumor tissue from a previous surgery, it will be tested. They will be contacted once a year by phone.
  • NIH Group participants will have a baseline visit. This can take up to 4 days. They may have to stay in the area overnight. The visit will include:

    • Physical exam
    • Evaluation of tumor tissue if available
    • Optional tumor biopsy
    • Blood tests
    • Scans: A machine will take pictures of the body.
    • Photographs of skin lesions or other issues
    • Skin exam
    • Eye exam
  • NIH Group participants will have visits once or twice a year. These will include a physical exam, lab tests, scans, and other tests as needed.
  • Participants who have a confirmed mutation will be asked to contact any relatives who may be at risk and ask them about joining the study.

Condition or disease
Mesothelioma Families

Show Show detailed description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes
Actual Study Start Date : March 13, 2019
Estimated Primary Completion Date : July 6, 2026
Estimated Study Completion Date : July 5, 2027


Group/Cohort
1/Germline positive mesothelioma
Individuals with mesothelioma who have a BAP1 or other DNA repair/cancer predisposition mutation regardless of CLIA confirmation
2/CLIA confirmed germline mutation without mesothelioma
Individuals with a CLIA confirmed BAP1 or other DNA repair/cancer predisposition mutation who do not have a diagnosis of mesothelioma



Primary Outcome Measures :
  1. Incidence and frequencies of Cancers [ Time Frame: ongoing ]
    Standard exploratory and descriptive measures will be used. Counts, incidence, and frequencies of cancers identified via screening procedures on this trial will be reported, all in the context of an exploratory study with appropriate caveats.



Information from the National Library of Medicine

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, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Persons with mesothelioma and family members as well as individuals with CLIA documented germline BAP-1 and other DNA repair/cancer predisposition mutations
Criteria
  • Inclusion Criteria:

Inclusion Criteria for Genetic Testing:

Cohort 1:

  • Subject with pathology confirming a diagnosis of mesothelioma.
  • Subject must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion.

OR

-Subject with mesothelioma otherwise eligible for genetic testing in Cohort 2

OR

  • Subject must have deleterious germline mutation in another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel. Results from either research or clinical analyses are sufficient for this criterion.
  • Age greater than or equal to 2 years

Cohort 2:

-Individual with a germline BAP1 mutation who does not have a history of mesothelioma (other cancers are allowed). Results from either research or clinical analyses are sufficient for this criterion.

OR

-Individual with no history of mesothelioma with:

--A biological first degree relative (living or deceased) with a history of mesothelioma

OR

--A first degree biological relative with a CLIA confirmed germline mutation in BAP1

OR

--A second degree biological relative with a CLIA confirmed germline mutation in BAP1 if relevant first degree relative is deceased or unavailable for testing,

OR

--A first degree biological relative with mesothelioma and a CLIA confirmed germline mutation in another DNA-repair/cancer predisposition gene that is listed on a commercially available, cancer-associated common or customized gene panel

OR

  • A second degree biological relative with mesothelioma and a CLIA confirmed germline mutation in BAP1

    -Age:

  • greater than or equal to 2 years for subjects with a BAP1 or TP53 mutation or with a first degree relative relative that has a germline mutation in TP53 or BAP1
  • greater than or equal to 16 years for all other eligible potential mutations

All participants must understand and be willing to sign a written informed consent

Exclusion Criteria for Genetic Testing

None

Inclusion Criteria for Surveillance:

  • Genetic testing criteria including age restrictions for respective cohorts must be met
  • Subjects in Cohort 1 may be enrolled with positive results for germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel regardless of CLIA confirmation
  • Subjects in Cohort 2 must have CLIA confirmed germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel

Exclusion Criteria for Surveillance:

None


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03830229


Contacts
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Contact: Maria G Agra, R.N. (240) 858-3152 mariagracia.agra@nih.gov
Contact: Raffit Hassan, M.D. (240) 760-6232 rh276q@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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Principal Investigator: Raffit Hassan, M.D. National Cancer Institute (NCI)
Additional Information:
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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT03830229    
Other Study ID Numbers: 190049
19-C-0049
First Posted: February 5, 2019    Key Record Dates
Last Update Posted: July 7, 2022
Last Verified: April 25, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .All IPD recorded in the medical record will be shared with intramural investigators upon request. In addition all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: Clinical data in BTRIS will be shared throughout the course of the study and indefinitely with the permission of the investigator.@@@@@@Genomic data will be shared from the time of upload to dbGaP.
Access Criteria: Clinical IPD will be shared through the BTRIS database for open ended analysis. All BTRIS subscribers, generally limited to the NIH Clinical Center, may request data.@@@@@@Genomic IPD will be shared through dbGaP, per rules of the database, for purposes of genomic analysis.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
DNA Repair Genes
Natural History
Additional relevant MeSH terms:
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Mesothelioma
Mesothelioma, Malignant
Adenoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms
Neoplasms, Mesothelial
Lung Neoplasms
Respiratory Tract Neoplasms
Thoracic Neoplasms
Neoplasms by Site
Pleural Neoplasms
Lung Diseases
Respiratory Tract Diseases