As a parent of a 19 year old son with Dravet syndrome, I recognize that the idea of giving up your time to participate in any type of research may sound overwhelming or next to impossible. Your days are already packed from morning to night with the constant care of your child, including therapies, medical appointments, dealing with insurance issues, educational plans, and much, much more. But, caregiver involvement in natural history studies is vital.

One of the reasons that natural history studies are so important is that they help a rare disease, such as Dravet syndrome, to be better understood. It studies the hallmarks of the disease and how they progress over time, while unfolding patterns that might otherwise go unnoticed. A longitudinal natural history study can track the course of the disease from inception to the point that the patient is chronically disabled to beyond. It is intended to describe all aspects of the disease and identify demographics, genetics, environmental impact, and other variables that correlate with the disease and outcomes.   

Once significant natural history study data is available for a disease state, it can help with patient care including best practices of care and identifying research priorities. Information obtained from a natural history study can also play an important role at every stage of drug development, from drug discovery to the design of clinical studies intended to support a drug’s marketing approval. The significance of this data cannot be emphasized enough. Outcome measures are the foundation upon which a trial is deemed successful or not. For instance, without a natural history study in place defining the progression of Dravet syndrome, it could be difficult to determine how any experimental therapy has made a difference in the progress of symptoms. 

DSF has spent the last few years looking at natural history study opportunities that will best serve our community. Those of you who joined us at the 2018 DSF Conference in Colorado may have seen Dr. Anne Berg present her work in developing a natural history study. Or, you may have participated before, during or after our conference in an initial study survey to help guide the further development of her project. Her work on this project continues and we will share updates as they become available. DSF has also been speaking with another researcher who is interested in developing a natural history study for Dravet syndrome that could be replicated in other countries, with all participants collecting the same data points. With guidance from our medical advisory board, we will continue to discuss these options to find what will be most effective for our community.

While we continue to explore options for a long-term study, Stoke Therapeutics recently launched the BUTTERFLY Study – a short-term natural history study – to allow them to collect information about the mental development, behavior, movement, communication skills, seizure frequency, and sleep pattern of young people with Dravet syndrome. The results from this observational study will allow them to create and evaluate clinical outcome assessments as part of their anticipated upcoming clinical trials. More information on the study criteria for the BUTTERFLY Study and how to participate can be found at this link.

I encourage you to stay connected to DSF to receive updates on natural history studies that are recruiting and to participate where you can. Data collected through natural history studies will be invaluable for future clinical trials, including potential genetic therapies, and will allow us to fully define the spectrum and clinical course of Dravet syndrome.