June 23rd is marked as Dravet Syndrome Awareness Day.
Dravet Syndrome is a rare, genetic epileptic encephalopathy that gives rise to seizures that don’t respond well to seizure medications. It begins in the first year of life in an otherwise healthy infant.
Reports suggest 1 in 20,000 to 1 in 40,000 people have Dravet syndrome. A blood test for the mutation can confirm the diagnosis. Sometimes a gene mutation is not found on testing, but the syndrome may be diagnosed based on symptoms.
Diagnosing the child early is critical to proper treatment and achieving the best outcome. Getting the best seizure control possible is the goal; however, complete seizure freedom is usually not achieved. Usually, 2 or more seizure medications are needed to treat the multiple seizure types with this syndrome.
There is still more research needed in order to find treatment for this devastating genetic disorder.
GCT is proud to be a part of this research – one of our most recent projects includes a Phase II Dravet Syndrome Study in children and adults. If you would like to learn more about our experience in CNS and Rare diseases, please reach out to us at bd@gctrials.com