Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer, Cutaneous Fibrofolliculoma and Pulmonary Cysts
2 other identifiers
observational
950
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 5, 2002
CompletedFirst Posted
Study publicly available on registry
April 8, 2002
CompletedStudy Start
First participant enrolled
May 13, 2002
CompletedApril 20, 2026
January 28, 2026
April 5, 2002
April 17, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (5)
Identify genotype / phenotype correlations.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Determine if other genes contribute to BHD.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Define types and characteristics (including patterns of growth) of renal cancer associated with BHD.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Define the natural history of BHD related renal tumors.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
on-going
Study Arms (3)
Family Members
A relative of a patient with a confirmed or suspected diagnosis of BHD (related by blood)
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.)
Patients
Patients with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD
Eligibility Criteria
Patients with histologically confirmed fibrofolliculomas, Patients with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and a family history of spontaneous pneumothorax or kidney cancer, a biological relative of a patient with a confirmed diagnosis of BHD. Patients with a known germline FLCN mutation
You may qualify if:
- Individuals suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube, such as:
- 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
- Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, oncocytic neoplasm or oncocytoma.
- 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.
- Participants must be greater than or equal to 2 years of age.
- A relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
You may not qualify if:
- NONE
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
W. Marston Linehan, M.D.
National Cancer Institute (NCI)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 5, 2002
First Posted
April 8, 2002
Study Start
May 13, 2002
Last Updated
April 20, 2026
Record last verified: 2026-01-28
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, SAP, ICF
- Time Frame
- Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
- Access Criteria
- Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.@@@@@@Genomic data are made available via dbGaP through requests to the data custodians.
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.