Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
NCT ID: NCT00033137
Last Updated: 2025-11-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
950 participants
OBSERVATIONAL
2002-05-13
Brief Summary
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* 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
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* Birt-Hogg-Dube (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 Chromosome17p11.2
* 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 individuals 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:
* Individuals suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube, such as:
* Individuals with histologically confirmed fibrofolliculomas,
* Individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer
* Individuals 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.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Family Members
A relative of a patient with a confirmed or suspected diagnosis of BHD (related by blood)
No interventions assigned to this group
Non-Biologic Family Members
Spouses enrolled primarily for linkage analysis(Spouses have been removed from the inclusion criteria for this study. This closed cohort has been created for spouses previously enrolled on study.)
No interventions assigned to this group
Patients
Patients with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Individuals with at least one histologically confirmed fibrofolliculomas; or
* Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer; or
* Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer; or
* Individuals with a known germline FLCN gene mutation
2. Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, oncocytic neoplasm or oncocytoma.
3. All participants and guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed.
4. Participants must be greater than or equal to 2 years of age.
5. A relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
Exclusion Criteria
2 Years
ALL
Yes
Sponsors
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National Cancer Institute (NCI)
NIH
Responsible Party
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Principal Investigators
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W. Marston Linehan, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Cancer Institute (NCI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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02-C-0159
Identifier Type: -
Identifier Source: secondary_id
020159
Identifier Type: -
Identifier Source: org_study_id
NCT00039533
Identifier Type: -
Identifier Source: nct_alias