The American Epilepsy Society (AES) meeting is the largest epilepsy meeting of the year, and because it takes place every month of December it also serves as an annual review on the understanding and treatment of epilepsies. These are my main insights from the American Epilepsy Society 2024 meeting.
For the past ten years the Loulou Foundation hosts an annual meeting where scientists and drug developers working on CDKL5 deficiency, together with representatives from patient organizations, meet to discuss the latest advances.
Here are the main news and take-home messages from the 2024 CDKL5 Forum that took place in October 28-29 in Boston
La décima edición del Foro CDKL5 tuvo lugar en Boston, los días 28 y 29 de octubre de 2024. El Foro es una reunión anual que organiza la Fundación Loulou y en la que científicos y miembros de la industria farmacéutica se reúnen con representantes de la comunidad de pacientes para repasar los últimos avances en el campo.
Este es un repaso para los grupos de pacientes de las principales novedades del Foro CDKL5 2024.
Patients with Dravet syndrome caused by missense mutations in SCN1A are candidates for the clinical trials with ASOs and gene therapies to increase SCN1A expression, and will be candidate for this therapies after approval.
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.
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.
