Symptoms and General Pathology

All Conditions

Respiratory Tract (Lung and Bronchial) Diseases

Neoplasms

Diseases and Abnormalities at or Before Birth

Rare Diseases

Syndrome

Pneumothorax

Cysts

Birt-Hogg-Dube Syndrome

Pleural Diseases

Respiratory Tract Diseases

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

Primary Spontaneous Pneumothorax

Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": visit to out-patient clinic,CT scan of pulmones.

Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": withdrawal of blood sample for DNA analyses,

A low dose CT scan of the thorax (2mSv) wil be performed once.

CT scan of the thorax

A venous punction in order to withdraw 16ml blood is undertaken once.

blood sample for FLCN mutation analyses

Jincey D. Sriram, MD, MSc

Hans JM Smit, MD,PhD

Hans JM Smit, MD. PhD

Jincey Sriram, MD

Pieter E. Postmus, MD, PhD

Hans JM Smit, MD, PhD

To assess the prevalence of BHD (Birt-Hogg-Dubé syndrome) among patients with spontaneous pneumothorax. Patients who were treated for primary spontaneous pneumothorax in Rijnstate hospital are to be included. Patients will receive a questionnaire. When given consent, the investigators will invite them for a one-time visit to the out-patient clinic. Patients will be asked for a blood sample to determine pathogenic FLCN (folliculin) mutations and a pulmonary CT scan for evaluation of presence of lung cysts.

Based on the results of the pilot study in VUmc \*Free University Medical Center), in which 3 out of 40 tested patients had a pathological FLCN mutation, the investigators decided to extend the study to a second center; Rijnstate Hospital Arnhem. In this hospital a retrospective search was performed; patients who were treated for primary spontaneous pneumothorax were included. In the dossiers the investigators searched for medical history, pneumothorax side and recurrence, diagnostic imaging, treatment, co-morbidity, complications of treatment, skin abnormalities, kidney disease, smoking behavior, medication, and familial incidence of pneumothorax and other diseases. Patients will receive a letter with explanation of the research and a questionnaire in which the investigators ask them their about the medical status, co-morbidity, pneumothorax (number and side), smoking behavior, use of drugs, familial incidence of pneumothorax and other diseases.

The population will be formed out of patients who have returned the fully filled in questionnaire and who have given permission to receive information for further research. This further information will consist of an information letter on BHD syndrome and a consent form for a one-time visit to the out-patient clinic of Rijnstate hospital. Investigators expect that about 200 patients will return the fully filled in questionnaire and give their consent for further research. In a one-time visit in out-patient clinic, there will be given personal information on BHD syndrome and there will be performed physical examination for finding fibrofolliculomas. A pulmonary CT scan for evaluation of presence of lung cysts will be performed. Two samples of venous blood will be collected to access information on DNA diagnostics for pathogenic FLCN mutations. These are associated with the BHD syndrome. This last diagnostic testing will be performed in VUmc (Vrije Universiteit medisch centrum or Free University Medical Centre).

Prevalence of Spontaneous Pneumothorax in BHD

Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax

Prof. Dr. Jaap Swieringa stichting

Mr. Willem Bakhuys Roozeboomstichting

Rijnstate Hospital

Hans Smit

MD, PhD

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Nervous System Diseases

Heart and Blood Diseases

Skin and Connective Tissue Diseases

Carcinoma, Renal Cell

Von Hippel-Lindau Disease

Leiomyomatosis

Carcinoma

Adenocarcinoma

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Kidney Neoplasms

Urologic Neoplasms

Urogenital Neoplasms

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Kidney Diseases

Urologic Diseases

Male Urogenital Diseases

Neurocutaneous Syndromes

Angiomatosis

Vascular Diseases

Ciliopathies

Congenital Abnormalities

Abnormalities, Multiple

Leiomyoma

Myofibroma

Neoplasms, Connective and Soft Tissue

Renal Cell Carcinoma

Hereditary Leiomyomatosis and Renal Cell Cancer

Joshua Mann, MPH

MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other factors impact the disease and quality of life. These insights help you better understand the condition and help researchers know where to focus their efforts.

Due to its rarity, there is less understanding of VHL and the factors that may have an impact. The data individuals provide in MyVHL helps researchers identify and uncover factors that may increase risk, inhibit or slow tumor growth, or lead to an effective cure.

MyVHL: Patient Natural History Study

When participant information is stored, the investigators are careful to protect any patient identifying information from discovery by others. Strict security safeguards are in place to reduce the chance of misuse or unplanned release of information.

Researchers will only use participant information in a de-identified manner. De-identified means that the researchers will use participant information without knowing their identity. In some cases, they may use some identifying information about the participant for research purposes, subject to an approval process through the VHL Alliance MyVHL Research Committee. At times, the researchers will use participant information with a code, instead of their name; the code would allow results of the research to be linked back to the participant.

Data regarding changes in number of CNS, kidney, adrenal, retinal, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, over a lifetime.

Data regarding changes in size of CNS, kidney, adrenal, retinal, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, over a lifetime.

National Organization for Rare Disorders

Director of Health

Disease Susceptibility

Disease Attributes

A relative of a patient with a confirmed or suspected diagnosis of BHD (related by blood)

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.)

Patients with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD

Deborah A Nielsen, R.N.

W. Marston Linehan, M.D.

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

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 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. 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.

Background:

* Birt-Hogg-Dub(SqrRoot)(Copyright) (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 Chromosome17
* 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 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 suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube, such as:

  * Patients with histologically confirmed fibrofolliculomas,
  * Patients with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer
* Patients with a known germline FLCN mutation
* A relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD

Design:

* These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
* Genetic testing will be offered to gain appreciation of the effect of mutations the BHD gene and to assess the relative activity of various germline and somatic mutations.
* We will determine if there is a relationship between mutation and disease manifestations and phenotype.

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

.All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.

Collection of blood, saliva, tissue \&amp; urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer

National Cancer Institute (NCI)

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Prevalence of Spontaneous Pneumothorax in BHD	NCT02916992	Spontaneous Pne...	CT scan of the ... blood sample fo...	18 Years -	Free University Medical Center
MyVHL: Patient Natural History Study	NCT03749980	Von Hippel-Lind... Hereditary Leio... Birt-Hogg-Dube ... SDHB Gene Mutat...		-	VHL Alliance
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer	NCT00033137	Kidney Neoplasm... Kidney Cancer Pneumothorax FLCN Protein, H...		2 Years -	National Institutes of Health Clinical Center (CC)
MyVHL: Patient Natural History Study	NCT03749980	Von Hippel-Lind... Hereditary Leio... Birt-Hogg-Dube ... SDHB Gene Mutat...		-	VHL Alliance

Spots Global Cancer Trial Database for bhd

Every month we try and update this database with for bhd cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for bhd

Every month we try and update this database with for bhd cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for bhd cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.