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Ehlers-Danlos syndrome, dermatosparaxis type |
Dermatosparactic type of Ehlers-Danlos syndrome; Dermatosparaxis; Human dermatosparaxis |
Clinical Trial: Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study is currently recruiting patients.
Purpose
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
- 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 scans of the chest and abdomen (imaging studies using radiation)
- 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. Patients 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.
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MedlinePlus consumer health information
Study Type: Observational
Study Design: Natural History
Official Title: The Birt Hogg-Dube Syndrome: Identification of the Disease Gene and Characterization of the Predisposition of Renal Cancer
Expected Total Enrollment: 450
Study start: April 3, 2002
The Birt Hogg Dube syndrome (BHD) is a rare inherited disorder characterized by a predisposition to develop benign hair follicle tumors on the head and neck. We found that patients affected with BHD have an increased risk of developing renal cancer and lung defects which confer susceptibility to spontaneous pneumothorax. The goals of this proposal are to define the types and rate of growth of renal carcinoma associated with BHD, to further define the risk of developing renal cancer, and lung cysts in BHD patients, to learn the incidence of BHD mutations; to determine genotype/phenotype correlations, and to follow up observations suggesting that there is genetic heterogeneity in the Birt Hogg Dube syndrome.
Eligibility
Genders Eligible for Study: Both
Criteria
Patients with known or suspected Birt Hogg Dube Syndrome and their family members of any age will be recruited from the dermatology, urology, oncology, and genetics communities worldwide.
Patients with at least one histologically confirmed fibrofolliculomas; or
Patients with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax / or kidney cancer; or
Patients with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer; or
A relative of a patient with a confirmed diagnosis of BHD.
EXCLUSION CRITERIA:
Persons unable to give informed consent.
Location and Contact Information
Maryland
National Cancer Institute (NCI), 9000 Rockville Pike, Bethesda, Maryland, 20892, United States; Recruiting
More Information
Detailed Web Page
Publications
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317-20.
Linehan WM, Lerman MI, Zbar B. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA. 1995 Feb 15;273(7):564-70. Review. No abstract available.
Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Zbar B, et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet. 1997 May;16(1):68-73.
Record last reviewed: March 18, 2005
Last Updated: March 11, 2005
Record first received: April 5, 2002
ClinicalTrials.gov Identifier: NCT00033137
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08
Source: ClinicalTrials.gov
Cache Date: April 9, 2005
Resources
- Ehlers-Danlos syndrome, dermatosparaxis type (Genetics Home Reference)
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