Many orphan drugs are advanced therapies. Pricing and access are major issues. Epilepsy is catching up with gene therapy. We shouldn’t call them rare diseases, but frequently misdiagnosed diseases. Either we wait 2,000 years for treatments or we start thinking “many diseases at a time”, and online patient communities are now part of the drug development process. That’s the short summary of the main lessons I took home from attending the World Orphan Drug Congress at the National Harbor April 10-12. The WODC one of the largest meetings dedicated to the development of new medicines for rare diseases and takes place once in the US and once in Europe every year. In a bit more detail, here is the expanded list of what I would like to share with you from the conference.

There are multiple gene therapy programs in development for Dravet syndrome including those that supply and extra copy of the SCN1A gene and those that boost expression from the healthy SCN1A gene copy. Clinical trials are around the corner, with Stoke Therapeutics expecting to initiate clinical trials in 2020. Just Stoke is not enough. New corporate players, and ideally some precompetitive collaboration around the common challenges of validating clinical outcome measures and biomarkers, are needed to maximize the success of gene therapies for Dravet syndrome.  

2018 saw a record year in orphan drug approvals in Europe, but there are reasons to worry. Year after year, the number of orphan drug approvals in Europe is only one fifth to one third of the number of drug approvals in the US. Also, if orphan designations represent an early marker of the orphan drug development trend, then we might expect a decrease in the number of approvals in the immediate future. This article reviews the number of orphan drug designations and approvals in Europe in the 2000-2018 period to understand the trends that might impact the number of orphan drug approvals in the next few years.

With 2018 now behind us, it is time to review how well companies working on Dravet syndrome delivered based on the timelines that they had announced at the beginning of the year. While it is hard to predict exactly when many milestones are going to happen, in particular those still over half a year away or more, the class of 2018 did quite well overall, and many of the news that we were expecting took place on schedule – with some exceptions.