A recurring theme of this blog has recently been a call for further interaction of individuals with BHD Syndrome with the research community, whether that be through the creation of ”patient groups’ or involvement in clinical trials. This entry is a rather unabashed advertisement for two clinical trials looking to recruit individuals with BHD Syndrome.
The purpose of the first study is to determine whether topical application of rapamycin can lead to the reduction in size and/or number of fibrofolliculomas in BHD patients and may prevent the growth of new ones, with the secondary aims of evaluating rapamycin safety, formula acceptance and patient satisfaction. This trial is currently based within the Netherlands and is run by the Maastricht University Medical Center in collaboration with the Myrovlytis Trust.
The second is a trial to study the genetics of patients and families who have Birt-Hogg-Dube syndrome to identify patients who are at risk of developing kidney cancer and is being lead by the National Cancer Institute (NCI) based in the USA.
If you have BHD Syndrome, or are a clinician with access to BHD syndrome patients and want to find out more about these trials, please follow the links here.
One thought on “Now Recruiting…”
I was diagnosed with BHD many years ago. I have my 3rd diagnosis of kidney cancer. The kidney oncologist who is working with me decided to take a wait and see approach as I have had 2 previous surgeries. A 3rd is too risky. I also have lung blebs. My diagnosis has not been confirmed genetically but clinically. My genetics doctor will not do the genetics testing as it is too expensive. As a result my daughter can not be tested. So far, her kidneys are fine. She does however have the small bumps on her face. She has lung cysts. What do we do? Can we participate in some sort of study or trial from Winnipeg, Manitoba, Canada. My doctor has forbidden me to fly as to the risk of spontaneous pneumothorax. Please help us.