Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer, Cutaneous Fibrofolliculoma and Pulmonary Cysts
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 950
- 试验地点
- 1
- 主要终点
- Identify genotype / phenotype correlations.
研究概览
简要总结
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.
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详细描述
Background:
- Birt-Hogg-Dube (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 FLCN 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 fibrofolliculomas in individuals 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:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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;
- •-Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;
- •-Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;
- •-Individuals with a known germline FLCN gene mutation
- •Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.
- •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.
排除标准
- 未提供
研究组 & 干预措施
Individuals
Individuals with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD
Family Members
A relative of an individual with a confirmed or suspected diagnosis of BHD (related by blood)
Non-Biologic Family Members
Spouses enrolled primarily for linkage analysis (Spouses have been removed from the inclusion criteria for this study. This closed cohort has been created for spouses previously enrolled on study.)
结局指标
主要结局
Identify genotype / phenotype correlations.
时间窗: on-going
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Determine if other genes contribute to BHD.
时间窗: on-going
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Define types and characteristics (including patterns of growth) of renal cancer associated with BHD.
时间窗: on-going
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.
时间窗: on-going
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Define the natural history of BHD related renal tumors.
时间窗: on-going
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
次要结局
未报告次要终点