Ignite Creation Date:
2024-05-06 @ 2:48 PM
Last Modification Date:
2024-10-26 @ 1:37 PM
Study NCT ID:
NCT04431024
Status:
RECRUITING
Last Update Posted:
2024-06-28
First Post:
2020-06-12
Brief Title:
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging Noninvasive Liquid Biopsies and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging Noninvasive Liquid Biopsies and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Status:
RECRUITING
Status Verified Date:
2024-09-26
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
A germline mutation is a change to a person s genes that is carried through their DNA These mutations can be passed on from parents to their offspring Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers Researchers want to follow people with these mutations to learn more
Objective
To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time
Eligibility
People age 30 and older who are suspected to have a BAP1 germline mutation
Design
Participants will be screened with a personal and family medical history Their medical records may be reviewed They will give a blood or saliva sample to test for a BAP1 mutation They will get genetic counseling
To take part in this study participants will enroll on 2 to 3 other protocols
Participants will have a physical exam They may have a tumor biopsy They will give blood and urine samples They will have skin and eye exams
Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas For this a small camera is inserted into the chest through a small incision
Some participants will have laparoscopy to examine the organs inside the abdomen For this a small camera is inserted into the abdomen through a small incision
Participants will have imaging scans of the chest abdomen and pelvis They may have brain scans
Participants will visit the NIH once a year for follow-up exams
Participation lasts indefinitely
A germline mutation is a change to a person s genes that is carried through their DNA These mutations can be passed on from parents to their offspring Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers Researchers want to follow people with these mutations to learn more
Objective
To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time
Eligibility
People age 30 and older who are suspected to have a BAP1 germline mutation
Design
Participants will be screened with a personal and family medical history Their medical records may be reviewed They will give a blood or saliva sample to test for a BAP1 mutation They will get genetic counseling
To take part in this study participants will enroll on 2 to 3 other protocols
Participants will have a physical exam They may have a tumor biopsy They will give blood and urine samples They will have skin and eye exams
Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas For this a small camera is inserted into the chest through a small incision
Some participants will have laparoscopy to examine the organs inside the abdomen For this a small camera is inserted into the abdomen through a small incision
Participants will have imaging scans of the chest abdomen and pelvis They may have brain scans
Participants will visit the NIH once a year for follow-up exams
Participation lasts indefinitely
Detailed Description:
Background
Mutations involving BRCA1-Associated Protein-1 BAP1 a nuclear deubiquitinase involved in epigenetic regulation of gene expression DNA repair and cellular energetics have emerged as one of the most common somatic mutations in malignant mesotheliomas
Germline mutations involving BAP1 predispose individuals to mesothelioma as well as a variety of other malignancies including melanoma and lung renal gastric breast and biliary tract cancers
The cancer penetrance of germline BAP1 mutations is nearly 100 with most patients developing multiple neoplasms
Presently there are no established guidelines for surveillance of cancer patients with germline BAP1 mutations or of cancer-free individuals with germline BAP1 mutations
Objectives
To prospectively gather information related to the use of dual energy computed tomographic imaging DECT together with minimally invasive surgical surveillance for early detection of pleural or peritoneal mesothelioma in patients with BAP1 tumor predisposition syndrome TPDS
Eligibility
Individuals with a history of any malignancy with known or suspected germline mutation involving BAP1
First- or second-degree relatives of patients with documented germline BAP1 mutations who are also found to carry similar germline mutations
Age greater than or equal to 30
Design
Individuals with suspected hereditary tumor predisposition syndromes will undergo germline evaluation using CLIA-certified next-gen sequencing NGS
First- and second-degree relatives of patients with germline BAP1 mutations will be offered similar NGS evaluation
Subjects with germline mutations in BAP1 will undergo periodic dual energy CT DECT scans of the chest abdomen and pelvis Plasma cell-free DNA cfDNA will be assessed at similar intervals and minimally invasive surveillance procedures ie video- assisted thoracoscopy and laparoscopy will be performed periodically to detect early subclinical malignancies that may be amenable to potentially curative local interventions
Mutations involving BRCA1-Associated Protein-1 BAP1 a nuclear deubiquitinase involved in epigenetic regulation of gene expression DNA repair and cellular energetics have emerged as one of the most common somatic mutations in malignant mesotheliomas
Germline mutations involving BAP1 predispose individuals to mesothelioma as well as a variety of other malignancies including melanoma and lung renal gastric breast and biliary tract cancers
The cancer penetrance of germline BAP1 mutations is nearly 100 with most patients developing multiple neoplasms
Presently there are no established guidelines for surveillance of cancer patients with germline BAP1 mutations or of cancer-free individuals with germline BAP1 mutations
Objectives
To prospectively gather information related to the use of dual energy computed tomographic imaging DECT together with minimally invasive surgical surveillance for early detection of pleural or peritoneal mesothelioma in patients with BAP1 tumor predisposition syndrome TPDS
Eligibility
Individuals with a history of any malignancy with known or suspected germline mutation involving BAP1
First- or second-degree relatives of patients with documented germline BAP1 mutations who are also found to carry similar germline mutations
Age greater than or equal to 30
Design
Individuals with suspected hereditary tumor predisposition syndromes will undergo germline evaluation using CLIA-certified next-gen sequencing NGS
First- and second-degree relatives of patients with germline BAP1 mutations will be offered similar NGS evaluation
Subjects with germline mutations in BAP1 will undergo periodic dual energy CT DECT scans of the chest abdomen and pelvis Plasma cell-free DNA cfDNA will be assessed at similar intervals and minimally invasive surveillance procedures ie video- assisted thoracoscopy and laparoscopy will be performed periodically to detect early subclinical malignancies that may be amenable to potentially curative local interventions
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 20-C-0106 | None | None | None |