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Genetic Study of Birt Hogg-Dube Syndrome and Kidney Cancer Risk

This observational study is investigating Birt Hogg-Dube (BHD) syndrome, a rare inherited condition that can increase the risk of kidney cancer. Researchers want to understand the genetic causes of BHD and how it relates to kidney tumors. They are looking for people with known or suspected BHD, including those with specific skin bumps (fibrofolliculomas) or a family history of BHD-related conditions. The study aims to identify the types of kidney tumors associated with BHD, determine the risk of kidney cancer and lung cysts in people with BHD, and see if other genes contribute to the condition. The goal is to better understand BHD and potentially lead to new treatments.

Study design
This is an observational study planning to enroll 950 participants. It is not testing a specific drug or intervention.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed on an ongoing basis to identify genotype/phenotype correlations and determine the risk of renal cancer, lung cysts, and fibrofolliculomas.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00033137

Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer

Recruiting
Not specifiedAges 2+Observational
National Cancer Institute (NCI)
~950 participants
Updated 2026-09-16 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identify genotype / phenotype correlations.
Measured over on-going
+4 more outcomes measured

Conditions

Kidney Neoplasms
Kidney Cancer
Pneumothorax
FLCN Protein, Human

Explore related trials

Birt-Hogg-Dube SyndromeFibrofolliculomaKidney CarcinomaPneumothoraxFolliculin

NCT00033137

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • W. Marston Linehan, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Deborah A Nielsen, R.N.
[email protected]
(240) 760-6247
Email the study team

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Eligibility criteria

Inclusion

Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:
Individuals with at least one histologically confirmed fibrofolliculomas;
Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;
Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;
Individuals with a known germline FLCN gene mutation
Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.
Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
Participants must be \>= 2 years of age.
For children less than 18 years of age, parental permission or legal guardian consent will be obtained.

What this trial measures

  • Identify genotype / phenotype correlations.on-going

    Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer

  • Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.on-going

    Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer

  • Determine if other genes contribute to BHD.on-going

    Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer

  • Define types and characteristics (including patterns of growth) of renal cancer associated with BHD.on-going

    Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer

  • Define the natural history of BHD related renal tumors.on-going

    Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer