At DSF Spain we believe in the power of patient organizations to change the world. We call these patients “impatient patients” and are proud representatives of this movement.
We believe patient organizations have much more to bring to research than just raising funds and participating in clinical trials. Indeed many of the most influential patient organizations have opted for a strategy where they become integral members of the research community and key partners for the development of new treatments.
As a research foundation, we have had three main scientific objectives from day one: improving Dravet syndrome diagnosis, finding a drug with efficacy as fast as possible, and finding a cure. Here is a summary of our strategy and progresses in these three areas:
- - Improving Dravet syndrome diagnosis. Most patients with Dravet syndrome carry mutations in the SCN1A gene, so the way to differentiate Dravet syndrome from many other refractory epilepsy syndromes is as simple as a blood test. Because not everyone has easy access to genetic testing through their medical providers, we created a free genetic test program that has already processed more than 800 samples coming from all over the world. Because of this project, it is now easier to diagnose Dravet syndrome.
- - Finding a drug with efficacy as fast as possible. In order to look for an effective drug that could reach our hands in just a few years, our fast effective drug, we have divided our efforts between supporting those drugs currently undergoing clinical trials and launching repositioning projects. To reposition a drug means to find a new medical use for a drug that is already approved to treat another disease and that is therefore much faster to use in Dravet than any new drug that still needs to be developed. We have ongoing repositioning projects in zebrafish (Luxembourg) and in cell lines expressing Nav1.1 and Nav1.6 channels (Spain). Through these projects we are trying to determine if there is any drug already available from the pharmacies that could have efficacy in Dravet syndrome.
- - Finding a cure for Dravet syndrome. When it comes to progressing towards the cure, our major investment has been to remove barriers making it possible for many more people to do research in Dravet syndrome and therefore recruiting many extra brains and hands for our cause. SCN1A mutant mice modeling Dravet syndrome existed but they were not available for most in the scientific community. We have addressed this critical bottleneck by creating an open-access Dravet mouse model that is now available through the Jackson Laboratory repository for any researcher anywhere around the world. This has made it easier than ever to research in Dravet syndrome. We are now working on building a mouse testing service so that everyone who has an experimental drug for whatever disease will also be able to get it tried in the Dravet mice very easily, and that way we will capture many more therapeutic opportunities.
More than just science.
As important as what to do was how to do it. We needed to define how we would face those challenges. We realized it would require a large team working together, from researchers to companies to Dravet families, so our first priority was to create such a team and community around Dravet syndrome.We also realized that we needed to think big and try to change how research was being done, and that one of the most important things that needed to be changed for it to happen was tosit patient organizations at the table. We can only make a real impact towards finding a cure if we are part of the discussion when important decisions are made.
Because of this, much or our work goes beyond designing and financing research projects. We needed to create a community around Dravet syndrome to join efforts and today, thanks to the uropean Federation we are patient organizations from 13 countries working together. Working together also made it possible to run the large survey that collected data from almost 300 European families and that became a scientific publication that shows the power of patient organizations to generate medical knowledge and that has helped design better clinical trials. We have now designed a patient data platform that will make it easier to capture more patient-reported outcomes and to generate medical knowledge around Dravet syndrome and related pathologies.
The community that we have created goes beyond just patient organizations. For the second year we have gathered patient groups, neurologists, researchers, companies and regulatory agencies under the same roof to talk about how to get a cure for Dravet syndrome in a dialogue where we set the agenda and sit the patient groups at the table (2014, 2015). And we sit down regularly with all drug developers interested in Dravet syndrome to explore together how we can get faster to answering in the clinic if their drug has a potential as a suitable medication, and then get faster to the market.
All what we do builds on our main two pillars of collaboration and strategic investments. To explain other patient organizations how we think about drug development and how we identify those strategic investments we have developed a framework that is explained in the following slide deck and video-presentation.