CDKL5 DEFICIENCY IS REVERSIBLE

CDKL5 DEFICIENCY IS REVERSIBLE

CDKL5 deficiency is biologically reversible, bringing much hope and creating a sense of urgency for the development of restorative treatments for CDKL5 deficiency disorder (CDD). These are the conclusions of a publication from Zhaoland (Joe) Zhou’s lab from the University of Pennsylvania. The study was just published in the Journal of Clinical Investigation, and it is poised to become a landmark study in the field.

2021 CDKL5 ALLIANCE Virtual Family Conference

2021 CDKL5 ALLIANCE  Virtual Family Conference

Last weekend, the CDKL5 deficiency disorder (CDD) community gathered in front of their computers for a virtual annual meeting organized by the International CDKL5 Alliance. For the 2021 Alliance meeting, the organizing team commission a series of pre-recorded videos to a large range of speakers and published the videos with subtitles so that all CDD families from all around the world could watch them at the same time. You can also access the videos at the CDKL5 Alliance website. Here is a personal summary of the 2021 CDKL5 Alliance meeting.

Dravet syndrome pipeline review 2020 now available

Dravet syndrome pipeline review 2020 now available

As of end 2020, the Dravet syndrome pipeline comprises 3 approved drugs, 11 drug candidates, and 12 different products have received orphan drug designations. Since the last report the pipeline has changed by, among others, the approval by FDA and EMA of Epidyolex (cannabidiol) and Fintepla (fenfluramine), the initiation of the first clinical trial with an antisense therapy, and progresses in different disease-targeting modalities including gene therapy approaches.

Top 5 insights from the American Epilepsy Society meeting (2020)

Top 5 insights from the American Epilepsy Society meeting (2020)

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. This year the meeting was virtual, which made the exhibit hall and the poster sessions less exciting but also made the presentations more accessible, including a 90-day on-demand period after the meeting to catch up with all of the parallel tracks. These are my own 5 insights from the American Epilepsy Society 2020 meeting.