Ignite Creation Date:
2024-05-05 @ 11:25 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00033137
Status:
RECRUITING
Last Update Posted:
2024-06-28
First Post:
2002-04-05
Brief Title:
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Birt-Hogg-DubSqrRootCopyright Syndrome Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer Cutaneous Fibrofolliculoma and Pulmonary Cysts
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:
This study will investigate the genetic cause of Birt Hogg-Dube BHD syndrome and the relationship of this disorder to kidney cancer BHD is a rare inherited condition characterized by papules or bumps benign tumors involving hair follicles on the head and neck People with BHD are at increased risk of developing kidney cancer Scientists have identified the chromosome strand of genetic material in the cell nucleus that contains the BHD gene and the region of the gene on the chromosome This study will try to learn more about
The characteristics and type of kidney tumors associated with BHD
The risk of kidney cancer in people with BHD
Whether more than one gene causes BHD
The genetic mutations changes responsible for BHD
Patients with known or suspected Birt Hogg-Dube syndrome and their family members may be eligible for this study Candidates will be screened with a family history and review of medical records including pathology reports for tumors and films of computed tomography CT and magnetic resonance imaging MRI scans
Participants may undergo various tests and procedures including the following
Physical examination
Review of personal and family history with a cancer doctor cancer nurses kidney surgeon and genetic counselor
Chest and other x-rays
Ultrasound imaging study using sound waves
MRI imaging study using radiowaves and a magnetic field
CT scans of the chest and abdomen imaging studies using radiation
Blood tests for blood chemistries and genetic testing
Skin evaluation including a skin biopsy surgical removal of a small skin tissue sample for microscopic evaluation
Cheek swab or mouthwash to collect cells for genetic analysis
Lung function studies
Medical photography of skin lesions
These tests will be done on an outpatient basis in either one day or over 3 to 4 days When the studies are complete participants will receive counseling about the findings and recommendations Patients with kidney lesions may be asked to return periodically such as every 3 to 36 months based on their individual condition to document the rate of progression of the lesions
The characteristics and type of kidney tumors associated with BHD
The risk of kidney cancer in people with BHD
Whether more than one gene causes BHD
The genetic mutations changes responsible for BHD
Patients with known or suspected Birt Hogg-Dube syndrome and their family members may be eligible for this study Candidates will be screened with a family history and review of medical records including pathology reports for tumors and films of computed tomography CT and magnetic resonance imaging MRI scans
Participants may undergo various tests and procedures including the following
Physical examination
Review of personal and family history with a cancer doctor cancer nurses kidney surgeon and genetic counselor
Chest and other x-rays
Ultrasound imaging study using sound waves
MRI imaging study using radiowaves and a magnetic field
CT scans of the chest and abdomen imaging studies using radiation
Blood tests for blood chemistries and genetic testing
Skin evaluation including a skin biopsy surgical removal of a small skin tissue sample for microscopic evaluation
Cheek swab or mouthwash to collect cells for genetic analysis
Lung function studies
Medical photography of skin lesions
These tests will be done on an outpatient basis in either one day or over 3 to 4 days When the studies are complete participants will receive counseling about the findings and recommendations Patients with kidney lesions may be asked to return periodically such as every 3 to 36 months based on their individual condition to document the rate of progression of the lesions
Detailed Description:
Background
Birt-Hogg-DubSqrRootCopyright BHD is a rare autosomal dominantly inherited disorder which confers susceptibility to develop multifocal bilateral renal cancer spontaneous pneumothorax and fibrofolliculomas
BHD is caused by mutations in the FLCN gene located on Chromosome17
Defining the genetic and biochemical pathways leading to renal tumorigenesis in BHD may lead to the development of new molecularly targeted drugs
Objectives
To define the types and characteristics including patterns of growth of renal cancer associated with BHD
To determine the risk of renal cancer lung cysts and fibrofolliculomas in patients with BHD
To define the natural history of BHD related renal tumors
To determine if other genes contribute to BHD
Identify genotype phenotype correlations
Eligibility
Patients suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube such as
Patients with histologically confirmed fibrofolliculomas
Patients with clinical evidence of multiple skin papules consistent with fibrofolliculomas andor a family history of spontaneous pneumothorax or kidney cancer
Patients with a known germline FLCN mutation
A relative related by blood of an individual with a confirmed or suspected diagnosis of BHD
Design
These rare families will be recruited to genetically confirm diagnosis determine size and location of renal tumors size at presentation growth rate and metastatic potential of renal tumors
Genetic testing will be offered to gain appreciation of the effect of mutations the BHD gene and to assess the relative activity of various germline and somatic mutations
We will determine if there is a relationship between mutation and disease manifestations and phenotype
Birt-Hogg-DubSqrRootCopyright BHD is a rare autosomal dominantly inherited disorder which confers susceptibility to develop multifocal bilateral renal cancer spontaneous pneumothorax and fibrofolliculomas
BHD is caused by mutations in the FLCN gene located on Chromosome17
Defining the genetic and biochemical pathways leading to renal tumorigenesis in BHD may lead to the development of new molecularly targeted drugs
Objectives
To define the types and characteristics including patterns of growth of renal cancer associated with BHD
To determine the risk of renal cancer lung cysts and fibrofolliculomas in patients with BHD
To define the natural history of BHD related renal tumors
To determine if other genes contribute to BHD
Identify genotype phenotype correlations
Eligibility
Patients suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube such as
Patients with histologically confirmed fibrofolliculomas
Patients with clinical evidence of multiple skin papules consistent with fibrofolliculomas andor a family history of spontaneous pneumothorax or kidney cancer
Patients with a known germline FLCN mutation
A relative related by blood of an individual with a confirmed or suspected diagnosis of BHD
Design
These rare families will be recruited to genetically confirm diagnosis determine size and location of renal tumors size at presentation growth rate and metastatic potential of renal tumors
Genetic testing will be offered to gain appreciation of the effect of mutations the BHD gene and to assess the relative activity of various germline and somatic mutations
We will determine if there is a relationship between mutation and disease manifestations and phenotype
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 |
|---|---|---|---|
| 02-C-0159 | None | None | None |