Much has changed in the field of Dravet syndrome since the inception of DSF in 2009. In 2018, DSF debuted its 5-year strategic plan to articulate the long‐range direction and priorities for our foundation and patient community. The content for this strategic plan was derived by examining the Dravet syndrome landscape. We listened to a broad range of input from key stakeholders within our community regarding current community priorities, emerging needs, and organizational strengths and vulnerabilities.
The objectives and strategies described in this plan were reviewed and approved by our board of directors, as well as our scientific and medical advisory boards, and first shared with our community in June 2018. Over the last 5 years, these strategies have guided DSF’s efforts and investments, to balance our current and future needs.
We just released our final progress report of our 5-year strategic plan, which included some exciting research highlights for our final year, including:
- DSF funded and helped to lead an International Diagnosis and Treatment Consensus Project that was published in 2022 and outlined expert consensus on the presentation and priority treatment choices for Dravet syndrome that can help guide the clinical management of patients.
- DSF funded a postdoctoral fellow to investigate a genetic therapy targeting Scn8a that prevents the onset of seizures in mouse models of Dravet syndrome. Previous work suggested that Scn8a may be an effective therapeutic target in Scn1a haploinsufficiency models, and this project seeks to test it as a one-time gene therapy in mice.
- A DSF-funded study of gait and movement issues in adult patients with Dravet syndrome was published in 2022 with some of the first longitudinal data on these issues to-date (Selvarajah et al, Neurology 2022). DSF continues to support the efforts of this line of research, including raising awareness of participation opportunities in a Natural History Study of adult patients with Dravet syndrome conducted by the same research group.
- DSF provided funding for an academic-led Natural History Study that will begin in the second half of 2022 in the UK. This study will provide unprecedented detail on the progression of symptoms and comorbidities in Dravet syndrome as well as provide a model for the implementation of broader Natural History Studies.
- DSF funded a research project investigating a gene that may modulate the impacts of SCN1A haploinsufficiency. The research plans to deliver the gene to mice and test the impacts on brain communication and seizures in mouse models of Dravet syndrome.
- Research previously funded by DSF led to a publication providing proof-of-concept in mice that symptoms of Dravet syndrome may be reversible via gene therapy long after symptom onset and not just when administered at very early developmental stages (Valassina et al, Nature Communications 2022).
- Another research group funded by DSF posted a pre-print of a manuscript that details an alternative approach to delivering a healthy copy of the SCN1A gene using a specialized delivery vector large enough to carry the entire gene, addressing one of the largest hurdles to a classic gene therapy approach for Dravet syndrome (Fadila et al, bioRxiv 2022).
- DSF funded a group to investigate the molecular mechanisms of the ketogenic diet and metabolic disruption in a mouse model of Dravet syndrome using novel imaging techniques to understand the impacts of the ketogenic diet on the brain.
You can read about our many other organizational successes in our current progress report, here. And, you can see our full five year strategic plan and our annual progress reports at this link. It has been a productive and successful five years and we are currently discussing the plan for the next 5 years, which will be shared with the community in 2023. After the last successful five years, we are excited to see what we can accomplish in the next 5 years and beyond.