An observational study in Kidney Neoplasms, Kidney Cancer and Pneumothorax, sponsored by National Cancer Institute (NCI). Recruiting at 1 site in United States. Open to participants aged 2 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Cancer Institute (NCI) · Observational
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:
Individuals 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:
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. Individuals 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.
...
Background:
Objectives:
Eligibility:
-Individuals that meet one or more of the following criteria:
--Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:
or
--Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma
or
--Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD
Design:
969 studies on the registry are indexed under Kidney Neoplasms; 210 are open to participants now.
This study's planned enrollment of 950 is above the median of 211 across 215 observational studies indexed under Kidney Neoplasms.
Browse Kidney Neoplasms studies →National Cancer Institute (NCI) is the lead sponsor of 3,556 studies on the registry; 336 are open to participants now.
Of its 411 completed or terminated interventional studies of FDA-regulated products, 373 (91%) have results posted.
Counted across the registry records on this site, refreshed daily.
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, a biological relative of an individual with a confirmed diagnosis of BHD. Individuals with a known germline FLCN mutation
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Individuals that meet one or more of the following criteria:
-Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:
--Individuals with at least one confirmed fibrofolliculomas;
or
--Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma 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
OR
-Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.
OR
Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
-Participants must be >= 2 years of age.
EXCLUSION CRITERIA:
None.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The diagnosis was confirmed by looking at a sample under a microscope: tissue from a biopsy or surgery (histology), or cells from a fluid or needle sample (cytology).
Your pathology report is the document that shows this.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Histologically or cytologically confirmed
The diagnosis was confirmed by looking at a sample under a microscope: tissue from a biopsy or surgery (histology), or cells from a fluid or needle sample (cytology).
Your pathology report is the document that shows this.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A relative of an individual with a confirmed or suspected diagnosis of BHD (related by blood)
Individuals with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD
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.)
Identify genotype / phenotype correlations.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: on-going
Plan to share: Yes — 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 information: Study protocol, Statistical analysis plan, Informed consent form
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.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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