Genetic analysis of Birt Hogg-Dube syndrome and its link 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
This study is trying to find out the genetic reasons behind Birt Hogg-Dube syndrome and how it relates to kidney cancer in people who have this rare condition and their families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 950 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Drugs / interventions | radiation |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00033137 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients with confirmed or suspected Birt Hogg-Dube syndrome, including those with fibrofolliculomas or a family history of kidney cancer.
Not a fit: Patients without any genetic predisposition to Birt Hogg-Dube syndrome or those not exhibiting related symptoms may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of kidney cancer risk in patients with Birt Hogg-Dube syndrome.
How similar studies have performed: While studies on genetic predispositions to cancer exist, this specific investigation into Birt Hogg-Dube syndrome and its relationship to kidney cancer is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
-INCLUSION CRITERIA: 1. Individuals suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube, 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 2. Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, oncocytic neoplasm or oncocytoma. 3. All participants and guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. 4. Participants must be greater than or equal to 2 years of age. 5. A relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD. EXCLUSION CRITERIA: NONE
Where this trial is running
Bethesda, Maryland
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.