Dr. Nico, of course, needs no introduction. He concluded our day with a discussion about the present and future of diagnosis and treatment for BBS and other ciliopathies. Here I want to summarize the most important message of his talk:
We have to be patient with treatment and get it right.
Dr. Nico called the promising therapies that are emerging “ameliorating mitigations”–meaning that these therapies promise to either slow deterioration or restore some, but not all, function of some, but not all, cillia in a BBS patient. We are not talking about cures, but about lessening the effects of BBS.
The two most promising therapies for the short term are TUDCA, discussed earlier, and an extract from broccoli. Both have shown some success in animal models of BBS. Both are being used or are in Stage III clinical trials in human beings for other diseases, so an important safety milestone has been passed.
However, this doesn’t mean that these therapies are not potentially dangerous. And it doesn’t mean that anyone should go out and start using one of these compounds.
There are several reasons for this:
1) Because BBS is so variable, we have to test therapies very carefully. Some therapies may work for some genes but not others, and some may work for some mutations but not other mutations of the same gene. If we are not careful with testing we may come to the false conclusion that something doesn’t work when it does work for some small part of the population.
2) If anyone goes out and starts using these compounds on their own and is hurt by taking too much or even some unknown and unique interaction in their body it will put a halt to all trials of that compound for everyone. It will delay anyone’s ability to use the therapy. Trying to self-medicate isn’t just dangerous for you, it could hurt everyone with BBS.
3) Often the promising compounds for therapy like TUDCA and Vitamin A are toxic in the wrong doses. Even worse, getting these compounds from unregulated sources (like a natural food store or over the internet) is especially dangerous. Testing of compounds from unregulated sources have shown that less than 50% are what the label claims they are. Many of them are just sugar pills. Others are much less or much more concentrated than the label claims. Others are contaminated with dangerous pollutants. The only safe way of taking these compounds is working with doctors in clinical trials.
4) A huge benefit of the lab research that has been done over the last few years–and the use of all the genetic material donated by BBS patients and their families–is that we can accelerate the testing of various therapies because we can easily make zebrafish models of many different variants of BBS. That means we can test each compound quickly to see if they have an effect. Therapies can be developed much more quickly now that all this preliminary work has been done–and that is why donating genetic material is so important to the future treatment of BBS.
5) We have made great progress in just the last few years. For the first time we have promising therapies–gene therapy, TUDCA and other compounds. But the worst thing we can do now is get ahead of ourselves. It is hard to be patient when you see your child, loved one or yourself battling the effects of BBS. But moving too fast with these therapies could hurt all of us and set back the progress we’ve made. We have to be patient.
I’ve got more notes to share from Nico’s presentation in the next few days, but I thought this message of Nico’s was so important that it needed to get out quickly.