Gene Therapies in Dravet Syndrome
Advances in our understanding of genetics mean that the medical and scientific environment is changing quickly for Dravet Syndrome, with promising new treatments on the horizon.
Gene therapy is a very broad term, which means any type of treatment that is changing our genetic make-up in some way. This may be by altering the gene itself, it may be by increasing the function of a normal gene, or it may be by inserting a new gene.
This is not science fiction now, this is reality, and its going to affect how we look after individuals with Dravet Syndrome.
Why gene therapy might be a promising treatment for Dravet Syndrome
Dravet Syndrome is a 'mono-genetic' condition, meaning that it is caused by one particular change (in around 85-90% of individuals, Dravet Syndrome is caused by a change in the SCN1A sodium channel gene). By setting out to correct that particular genetic change, gene therapy opens up the possibility of developing exciting new treatments for Dravet Syndrome.
The medicines that are currently available to treat Dravet Syndrome (including Sodium Valproate, Clobazam and Stiripentol as well as new and emerging treatments such as Epidyolex and Fenfluramine) are increasingly good at controlling the epileptic seizures associated with Dravet Syndrome. Unfortunately, even if individuals with Dravet Syndrome have controlled seizures, many continue to experience significant problems with learning, behaviour, movement and other areas of development.
By correcting or changing the faulty gene that we know is the underlying cause of Dravet Syndrome, gene therapies may be able to dramatically alter or even cure Dravet-related seizures and these other associated problems.
One of the reasons that researchers are so optimistic about gene therapy in Dravet Syndrome, is that this approach already has a successful track record in other neurological mono-genetic disorders, such as Spinal Muscular Atrophy (SMA) and Duchene Muscular Dystrophy. Although gene therapy studies in Dravet Syndrome are only in the early stages, researchers believe we are likely to see important advances during the next two to five years, bringing real hope to families.
In the video below, Professor Sameer Zuberi, Consultant Paediatric Neurologist at the Royal Hospital for Children in Glasgow and DSUK Medical Advisory Board member talks about the future promise of gene therapies currently in development for Dravet Syndrome.
Gene therapy research funded by DSUK
As part of our mission to bring hope to families living with Dravet Syndrome, an important part of DSUK's work is to fund medical research projects that may help identify new treatments and, one day, bring about a cure for this condition.
The DSUK research fund receives at least 10% of our yearly income, in addition to specific donations and fundraising from our supporters. One of the projects that we currently support, jointly with Great Ormond Street Hospital Children's Charity (GOSH) and Sparks (Children's Charity), is a gene therapy project led by the Institute of Neurology at University College London.
The aim of this research is to find out if it is possible to fix the SC1NA gene mutation in mice. Researchers are doing this by injecting mice with a gene therapy aimed at increasing the healthy expression of the SC1NA gene. Findings could help pave the way for future gene therapies that target the underlying causes of Dravet Syndrome in humans.
Find out more about this project, run by Dr Rajvinder Karda and her team, here.
Other genetic or gene therapies currently in development
In addition to the independent research, such as the study sponsored by DSUK, GOSH and Sparks, several pharmaceutical companies are developing potential genetic or gene therapies for Dravet Syndrome, with some studies starting as early as 2020 and 2021.
For example, Stoke Therapeutics, a US biotech company, has enrolled its first patient into clinical trials for SCN1A-related Dravet Syndrome. Encoded Therapeutics, another US-based research company, is due to progress clinical trials for SCN1A-related Dravet Syndrome in 2021. A number of other gene therapy projects are also in development. You can read a detailed review of all current projects in development here.
Currently, it is too early to know whether any of these developmental therapies will be successful, but it is very encouraging to see the wider medical community getting behind the search for a cure in Dravet Syndrome.
Many thanks to our Medical Advisory Board member, Andreas Brunklaus, for his assistance in co-authoring this section of the DSUK website.
SCN1A and Dravet Syndrome
Find out more about SCN1A mutations in Dravet Syndrome
Genetic Changes Beyond SCN1A
A clinical diagnosis of Dravet Syndrome is sometimes linked to a mutation in genes other than SCN1A. Find out more here
Find out more about genetic testing and genetic counselling.