I used to say that at the patient communities “we set the agenda”. It turns out we didn’t, we were borrowing the agenda from scientific meetings. The 2019 CDKL5 Alliance International Research and Family Conference redefined what a patient-centered conference truly is. In this article I summarise the elements that make a meeting truly patient-centered.
There are currently 4 clinical trials ongoing or about to start in CDKL5 Deficiency Disorder: ataluren, ganaxolone, TAK-935 and fenfluramine. This article is a summary of where we are with clinical trials for CDKL5 Deficiency Disorder for families and other interested readers including what we know about these four drugs, their efficacy, at which level of clinical development they are at, and where can you learn more about these trials.
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.
2019 will be the year when we might have the European launch of Epidiolex, the US approval and launch of Fintepla, an ongoing clinical trial with TAK-935, hopefully some news about the ability of Translarna to improve Dravet syndrome by rescuing some of the nonsense mutations, and a year to prepare for the clinical trials that starting in 2020 will dominate the field: gene therapy approaches for Dravet syndrome that will treat more than just seizures. This entry reviews when we expect the main news about the Dravet syndrome pipeline during 2019.
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.