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

Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer, Cutaneous Fibrofolliculoma and Pulmonary Cysts

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
2 Years and older
Sex
All sexes
Healthy volunteers
Accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Procedures mentioned: MRI scans, CT scans

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "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."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at the gene changes that cause Birt-Hogg-Dube (BHD) syndrome and how it is linked to kidney cancer. BHD is a rare condition passed down in families that can cause harmless skin bumps and raise the risk of kidney cancer. People with known or suspected BHD and their blood relatives may be able to join.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • You must be age 2 or older and meet at least one of the BHD or family criteria below.
  • You have at least one fibrofolliculoma—a harmless growth around a hair follicle—confirmed by testing a skin sample.
  • You have many skin bumps and a personal or family history of a lung collapsing on its own or kidney cancer.
  • You have had a lung collapse on its own, plus skin bumps or kidney cancer, and a family history of any of these problems.
  • You have a known inherited change in the FLCN gene.
  • Testing of your kidney tumor shows a type linked to BHD.
  • You are a blood relative of someone with confirmed or suspected BHD.
  • Children under 18 need permission from a parent or legal guardian.

Who can't join

    Simplified for readability. The official criteria below are what the study team uses.

    Official eligibility criteria

    * 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.

    Study sites (1)

    MD