Genetic analysis of Birt Hogg-Dube syndrome and its link to kidney cancer

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study investigates the genetic causes of Birt Hogg-Dube (BHD) syndrome, a rare inherited condition that increases the risk of kidney cancer. It aims to characterize the types and growth patterns of kidney tumors associated with BHD, assess the risk of kidney cancer and other related conditions, and explore the potential involvement of additional genes. Patients with known or suspected BHD and their family members will be recruited for genetic confirmation and detailed medical evaluations. The study will utilize family histories and medical records to identify relevant genetic mutations and their implications.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

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 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

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.
* For children less than 18 years of age, parental permission or legal guardian consent will be obtained.

EXCLUSION CRITERIA:

None.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: W. Marston Linehan, M.D. — National Cancer Institute (NCI)
• Study coordinator: Deborah A Nielsen, R.N.
• Email: deborah.nielsen@nih.gov
• Phone: (240) 760-6247

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.