Clinical trials are research programs that address specific questions regarding the effectiveness and safety of new drugs, combinations of drugs, treatments, surgical techniques, or medical devices. Additionally, genetic studies recruit individuals with the aim of understanding the genetic mechanism(s) underlying specific diseases.

As a researcher, you may want to keep an eye on new clinical trials to maintain a broader field of knowledge in this area. Clinical trials provide an insight into the application of scientific research and into the translation of research from bench to bedside.

As an individual diagnosed with BHD syndrome, you may want to keep an eye on current and/or upcoming clinical trials for BHD syndrome if you feel that you would be able to volunteer yourself to a particular study. Often, trials actively recruit new participants or enroll by invitation only, so you should always check to see which form of recruitment applies.

Clinical trials are not without a degree of risk. Patients should always consult their doctor about participating in a clinical trial.

For more information click on the links below and use the search term ‘Birt Hogg Dube’:

• http://www.clinicaltrials.gov/ – Registry of clinical trials conducted around the world.

• http://www.controlled-trials.com/ – Registry of current controlled clinical trials (trials in which a control group receive no treatment) which allows users to search, register and share information about randomised controlled trials.

There are currently five clinical trials applicable to individuals with BHD syndrome:

• Genetic Study of Patients and Families With Birt-Hogg-Dubé Syndrome
• Genetic Study of Patients With Inherited Urologic Malignancies
• Everolimus Therapy in Patients with Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer
• Prevalence of Spontaneous Pneumothorax in BHD
• Assessment of Safety of Air Travel in Patients with BHD Syndrome

One trial has been completed:

• Topical Rapamycin for Fibrofolliculomas (funded by the Myrovlytis Trust). Topical Rapamycin was shown to not be an effective treatment for fibrofolliculomas. For more information, please read our news item and blog post about this trial.