Active Trials

There are a number of active clinical trials specific to individuals with BHD syndrome are eligible for:

This trial aims to fully characterise the types of kidney cancer caused by BHD Syndrome and to calculate the risk BHD patients have of developing kidney cancer. Patients on this trial will undergo a number of non-invasive scans and tests on an outpatient basis and one the studies are complete will receive counselling about the findings and recommendations. This study is open to all BHD patients worldwide.

This is an observational study aiming to investigate the clinical symptoms of familial kidney cancers and to determine if there is a link between a given gene mutation, disease manifestation and phenotype including presenting age and rate of recurrence. This study is open to all those with a family history of kidney cancer, including those with BHD. Enrolled patients will undergo periodic clinical assessment at a medical center Bethesda, MD, USA.

This is multi-patient database for patients with Von Hippel-Linday Disease, Hereditary Leiomyomatosis, SDHB gene mutation and BHD.  To provide the patient community and researchers with more information about these conditions.

This is a study looking at the genetics of individuals at risk of developing kidney cancer. It involves a blood sample and questionnaires.

This is a phase I trial aiming to assess the prevalence of BHD among patients with spontaneous pneumothorax. Patients who were treated for primary spontaneous pneumothorax in the Rijnstate hospital, Netherlands are to be included. Enrolled patients will be invited for a one-time visit to the out-patient clinic. Patients will be asked for a blood sample to determine pathogenic FLCN mutations and a pulmonary CT scan for evaluation of presence of lung cysts. The Trial is ongoing but no longer recruiting.

Here we have listed current trials targeted specifically at patients with BHD. It will be updated every 3 months.

Other Clinical Trials

The International Kidney Cancer Coalition also have a worldwide clinical trials database for kidney cancer which is updated daily.

Further information can also be found at the following sites:

Last Updated: July 2021
Review date: July 2024