View clinical trials related to Birt-Hogg-Dube Syndrome.
Filter by:The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline kidney cancer will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated. This research will have a significant impact on the overall management of heritable kidney cancer syndromes patients and family members who are at risk for heritable kidney cancer syndromes. The study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. In addition this study could have impact on the management of patients with personal and/or family history of heritable kidney cancer syndromes.
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.
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.