Clinical Trials for Rare Diseases: A Bottleneck Effect?

Searching www.clinicaltrials.gov for current trials on BHD Syndrome reveals 3 studies; a) a genetic study of patients and families with BHD Sydrome; b) treatment of fibrofolliculomas with topical rapamycin and; c) another genetic study of patients with inherited urologic malignancies.

I wanted to see what was out there for two reasons – 1) it’s always useful to know what therapies are entering clinical trials and; 2) I hear a lot about individuals with BHD Syndrome (or by extension any rare genetic disease) willing to advance the efforts in the field by fundraising or increasing awareness or by donating money (which is all needed), but I’ve never been approached by anyone willing to participate in a clinical trial. So, I started to think about whether this was a limiting factor in trials for rare diseases. Given, becoming a human guinea pig isn’t for everyone, so hypothetically it will only ever ‘appeal’ to small percentages of people. Not a problem say, when you consider 10% of cases of common cancers is still relatively large but what about when you get down to the numbers of people with diseases like BHD Syndrome, where there are only approximately 100 families worldwide? Participating in a clinical trial is not something that should be done on a whim, nor should it be a prerequisite when the study population is small, but maybe it should be something people with rare diseases consider more carefully. Should it?

Regular readers of this blog will notice that this isn’t the usual informal dissemination of scientific research that I usually write, but it’s come to my attention that members of the ‘lay’ audience (for lack of a better term) have found the blog interesting too, so I thought this would be a good way of igniting an informal discussion about something that isn’t often discussed. We all know that clinical trials go on and many of us give them little thought. How many readers who have BHD Syndrome have considered entering a clinical trial? What do you think the pros and cons would be? Has anyone ever participated in one?


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