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.
Should we talk about syndromes based on the gene that causes them or should we talk about them (and treat them) based on the clinical characteristics that they display? Earlier this month, the epilepsy community gathered in Barcelona for the 32nd International Epilepsy Congress and there was a debate between genetic and symptom-base syndrome classification. This debate goes beyond semantics, and has important regulatory and access implications.
June 23 is a special day for families of people with Dravet syndrome. It is the International Dravet Syndrome Awareness Day, that in 2017 celebrates its 4th edition. That's why today we announce the publication of the 2017 Dravet Syndrome Pipeline and Opportunities Review, a market research publication that provides an overview of the global therapeutic landscape of Dravet syndrome.
Gene therapy is here, VCs want to invest in orphan drugs, Rettsyndrome.org foundation is doing a great work, the line between patients and drug developers is blurring, we should start talking about industry (not patient) engagement, networking is not always easy, and Fulcrum Therapeutics should be in your list of companies to watch.
In January of 2017, the European Medicines Agency approved everolimus for the treatment of seizures in tuberous sclerosis complex, becoming the first anti-epileptic medication ever approved. But there are more than 25 different molecular entities approved as anti-epileptic medications, so let me explain you why this case is different and why it represents a big milestone for the epilepsy field.
February 28 is the Rare Disease Day, and the global theme this year is research.
People from all over the world will come together this month to advocate for more research on rare diseases, and to recognize the critical role that patient organizations play in research.
I am excited to join this year Rare Disease Day and announce the launch of my first eBook: #ImpatientRevolution, a guide for impatient patient organizations.
