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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: The Birt Hogg-Dube Syndrome: Identification of the Disease Gene and Characterization of the Predisposition of Renal Cancer

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

Patients 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 sca

    Detailed Summary:

    Background

    • BHD is a rare, autosomal dominantly inherited disorder which confers susceptibility to develop multifocal, bilateral renal cancer, spontaneous pneumothorax and fibrofolliculomas.
    • BHD is caused by mutations in the BHD gene located on Chromosome17p11.2.
    • Defining the genetic and biochemical pathways leading to renal tumorigenesis in BHD may lead to the development of new molecularly targeted drugs.

    Objectives

    • To define the types and characteristics (including patterns of growth) of renal cancer associated with BHD.
    • To determine the risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.
    • To define the natural history of BHD related renal tumors.
    • To determine if other genes contribute to BHD.
    • Identify genotype / phenotype correlations.

    Eligibility

    • Patients with histologically confirmed fibrofolliculomas.
    • Patients with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and a family history of spontaneous pneumothorax or kidney cancer.
    • A relative of a patient with a confirmed diagnosis of BHD.
    • Patients with a known germline BHD mutation.

    Design

    • These rare families will b
      Sponsor: National Cancer Institute (NCI)

      Current Primary Outcome:

      • Define types and characteristics (including patterns of growth) of renal cancer associated with BHD. [ Time Frame: Ongoing ]
      • Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD. [ Time Frame: Ongoing ]
      • Define the natural history of BHD related renal tumors. [ Time Frame: Ongoing ]
      • Determine if other genes contribute to BHD. [ Time Frame: Ongoing ]
      • Identify genotype / phenotype correlations. [ Time Frame: Ongoing ]


      Original Primary Outcome:

      Current Secondary Outcome:

      Original Secondary Outcome:

      Information By: National Institutes of Health Clinical Center (CC)

      Dates:
      Date Received: April 5, 2002
      Date Started: April 3, 2002
      Date Completion:
      Last Updated: April 21, 2017
      Last Verified: February 28, 2017