Actively Recruiting
Birt-Hogg-Dube Syndrome: Genetic Study of the FLCN Gene and Kidney Cancer Risk
Led by National Cancer Institute (NCI) · Updated on 2026-04-20
950
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying Birt-Hogg-Dube (BHD) syndrome, a rare inherited condition that causes benign skin tumors and increases the risk of kidney cancer. The study aims to understand the types and characteristics of kidney tumors linked to BHD, the risk of kidney cancer in affected individuals, whether more than one gene causes BHD, and the genetic mutations responsible for the disorder. The research also explores connections between genetic changes and disease symptoms.
CONDITIONS
Brief Title
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals suspected or known to have signs or genetic traits of Birt-Hogg-Dube syndrome, including those with confirmed fibrofolliculomas or multiple skin papules with relevant personal or family history
- Individuals with spontaneous pneumothorax and skin papules or kidney cancer with family history of these conditions
- Individuals with known germline FLCN gene mutation
- Renal tumor tissue consistent with Birt-Hogg-Dube syndrome
- Participants aged 2 years and older
- Blood relatives of individuals with confirmed or suspected Birt-Hogg-Dube syndrome
- Participants and guardians must provide informed consent before study procedures
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Varies per participant
Participants undergo genetic testing and imaging to characterize Birt-Hogg-Dube syndrome and associated renal tumors.
1 to 2 visits depending on assessments needed
Duration - Ongoing
Participants are observed over time to track the natural history of Birt-Hogg-Dube related renal tumors and disease manifestations.
Periodic visits as scheduled by the study team
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Deborah A Nielsen, R.N.
W
W. Marston Linehan, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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