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Pneumothorax / Kidney Cancer / Kidney Neoplasms · Observational Study
ClinicalTrials.gov · August 13, 2026
Early or partial results. Treat as a signal, not a conclusion.
This is a registry record describing an ongoing observational study to characterize the genetic basis of Birt Hogg-Dubé syndrome and its association with kidney cancer risk. No results are yet reported in this registry entry; the study aims to identify genotype-phenotype correlations, quantify renal cancer risk, and define the natural history of BHD-related tumors.
Observational. Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human; age from 2 Years; accepts healthy volunteers. Intervention: Family Members; Individuals; Non-Biologic Family Members. n = 950. 1 site: United States.
This is a registry record describing an ongoing observational study to characterize the genetic basis of Birt Hogg-Dubé syndrome and its association with kidney cancer risk. No results are yet reported in this registry entry; the study aims to identify genotype-phenotype correlations, quantify renal cancer risk, and define the natural history of BHD-related tumors.
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This study is designed to establish the genetic architecture and clinical phenotype of a rare hereditary kidney cancer syndrome, which could improve risk stratification and surveillance strategies in affected families. However, no clinical actionability can be derived until results are published.
This is an ongoing observational registry study with no reported results; it documents planned genetic and phenotypic characterization of BHD syndrome and kidney cancer risk, but outcomes remain incomplete.
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This study is designed to establish the genetic architecture and clinical phenotype of a rare hereditary kidney cancer syndrome, which could improve risk stratification and surveillance strategies in affected families. However, no clinical actionability can be derived until results are published.
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What is missing. This record has no key findings. That is a gap in the analysis, not a judgement about the study.
Registry record from ClinicalTrials.gov (NCT00033137). This is a study registration, not published results. Lead sponsor: National Cancer Institute (NCI). Recruitment status: RECRUITING. Study type: OBSERVATIONAL. Enrollment: 950 participants (ESTIMATED). Conditions: Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human. Primary outcome measures: Identify genotype / phenotype correlations. , on-going; Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD. , on-going; Determine if other genes contribute to BHD. , on-going; Define types and characteristics (including patterns of growth) of renal cancer associated with BHD. , on-going; Define the natural history of BHD related renal tumors. , on-going. 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 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: * 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. 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. ...
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