This article is interesting for a couple of reasons. First, it describes the use of zebrafish as a model for Dravet syndrome. Zebrafish have become very useful in medical research. They are small, and easy and inexpensive to maintain and employ in drug response studies, especially in comparison to mice. Of course, although they [...]
This was a retrospective study, gathering information on Dravet patients who, over the last nine years, had followed a strict ketogenic diet for at least 12 weeks. In total, there were 60 children identified. The duration of their ketogenic diets ranged from 12 weeks to 54 months, with a median duration of 44 weeks. [...]
In response to a disease-causing genetic mutation, the expression of any of the other normal genes might be up-regulated or down-regulated. This can be surveyed and measured. But is each response good or bad? Is the response trying to compensate, and restore normal function - or is it an unavoidable repercussion of the disease, [...]
Many of the drugs used to treat Dravet Syndrome work by interacting with GABAA receptors. Each GABAA receptor is composed of subunits, and there are different versions of receptors depending on which subunits they have. Drugs have unwanted side-effects, and it is worth asking: if we hit just one specific kind of GABAA receptor, [...]
New treatments can arrive along a variety of pathways, and this review article describes an example of using a known drug in a new way - in this case, the trail by which fenfluramine became a drug candidate for Dravet Syndrome. Fenfluramine was found to accelerate weight loss in the 1960's, and was approved [...]
This is a survey of the efficacy of perampanel as an add-on therapy in children with Dravet syndrome. Perampanel (a.k.a. Fycompa) was first approved in 2012, and last year its use was extended to pediatric patients. The authors were able to gather data on 10 Dravet patients - their average age was 11.5 years, [...]
When the human genome was sequenced in 2000, it was hoped it would simplify the search for medicines - just compare the genome of someone with a disease to the healthy standard, identify the mutated gene, and develop a drug targeting that gene product. It turned out disease states were much more complicated, usually [...]
This article brought forth some interesting observations. First, a major caveat - this study was done in mice. Mice with a relevant mutation in the Scn1a gene have proven to be a useful model of Dravet, but one must never directly extrapolate any results to humans. Dividing the day into three 8-hour periods, it [...]
A number of publications have appeared recently reporting on the efficacy and safety of cannabidiol (CBD) as an add-on therapy, as its clinical trials are concluding and its use is extending. This paper describes an "expanded access" program - that is, when the FDA allows access to a drug before approval. This is of [...]