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.