Clinical trials: Birt-Hogg-Dube Syndrome
Birt-Hogg-Dube Syndrome
Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome
The aim of this study is to conduct survey-based assessments for the safety of air travel in patients with Birt-Hogg-Dube syndrome (BHD).
- Trial name
- NCT03040115
- Testing
- Non-Interventional Study
- Where
- United States
- Volunteers
- 104 people
- Sponsor
- University of Cincinnati
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Kidney Neoplasms, Kidney Cancer
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer.
- Conditions
- Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
- Trial name
- NCT00033137
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
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…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
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…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
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.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
Renal Cancer, Birt-Hogg-Dube Syndrome
Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer
Background: Research has shown that the drug everolimus can stop cancer cells from growing. It is approved for people with advanced kidney cancer.
- Trial name
- NCT02504892
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Cancer Institute (NCI)
Spontaneous Pneumothorax
Prevalence of Spontaneous Pneumothorax in BHD
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.
- Trial name
- NCT02916992
- Testing
- CT scan of the thorax, blood sample for FLCN mutation analyses
- Where
- Netherlands
- Volunteers
- 200 people
- Sponsor
- Hans Smit
Birt-Hogg-Dubé Syndrome
Topical Rapamycin for Fibrofolliculomas
The purpose of the study is to determine whether topical application of rapamycin can lead to reduction in size and/or number of fibrofolliculomas in BHD patients and may prevent the growth of new ones.
- Trial name
- NCT00928798
- Testing
- Rapamycin
- Where
- 2 sites in Netherlands
- Volunteers
- 19 people
- Sponsor
- Maastricht University Medical Center