Developing the First Ever Diagnosis and Treatment Guidelines for SCN8A

Working to assure our children receive the best care as soon as possible

The pain of learning our children have a devastating disorder is only made worse by how we must often fight to see our children get the best possible care.

With a rare epilepsy like SCN8A, only discovered to cause epilepsy in the last decade, there are many more questions that answers at this stage.

– How do the many different mutations affect our children?

– What is the progression of the disease and prognosis?

– And most importantly, how do we best treat the often evolving seizures and many comoribidities?

But why is this such an ongoing struggle? This is in part due to substantial scientific uncertainties – but also because of the absence of evidentiary-based consensus treatment guidelines.

Late in 2020, the International SCN8A Alliance convened the inaugural gathering of an SCN8A Clinician’s Network with over twenty pediatric neurologists. At this meeting, we presented feedback from a family survey on the issues of most concern to SCN8A families. Based on these community concerns, the clinicians agreed that the most urgent order of business was to develop standards of care to improve the treatment of SCN8A. 

In early 2021, we officially launched the first step of the process to develop consensus treatment guidelines – completing a thorough and structured review of the published literature and development of a draft disease concept model for SCN8A.

The SCN8A Diagnosis & Treatment Core Panel hard at work!

In November 2021, we held the first meeting of the core panel of leading clinicians and families representing a diverse range of exerts from across 5 continents. With their expertise and drawing from all available data, they are working to develop draft treatment guidelines which will then be evaluated by an even larger panel of experts and families to build global consensus on guidelines to diagnose and treat those with SCN8A.

It’s an incredibly rigorous and time-consuming process. At the end, there will still be many more questions than answers but it will nonetheless represent the first major step by the community of experts—leading SCN8A clinicians, prominent researchers, and engaged families—in codifying the best available evidence on treatment protocols for our children.

This has the potential to be the single most critical component to improving quality of care for our children with recognized and institutionalized guidelines to treat those with SCN8A. Once published, this effort has the potential to improve care whether your child is seen in a major university-based pediatric epilepsy center, a general neurologist or even a pediatrician in a remote setting anywhere around the globe. We believe it will provide a foundation for more structured and continuous rapid learning about what works or does not for specific and well-defined subgroups of our children with SCN8A.

We are incredibly grateful to this amazing group of leaders—caregivers and clinicians—who are giving their time and energy to this critical project. 

Leading this process are:

The SCN8A Treatment Guideline Project is Co-chaired by Dr. Scott Perry, a prominent SCN8A clinician and Neurosciences Medical Director at Cook Children’s in Fort Worth Texas

Gabi Conecker, President and Co-founder of the International SCN8A Alliance and mother to Elliott, a 9yo with a severe form of SCN8A, is Co-chair the Treatment Guidelines process.

The team will have the expert procedural direction and support from Dr. Elaine Wirrell, Director of Pediatric Epilepsy at the Mayo Clinic in Minnesota, who brings expertise in applying the modified Delphi process for the development of consensus treatment guidelines.

Our own Dr. Michael Hammer, co-founder of the International SCN8A Alliance, PI of our dedicated SCN8A registry and a researcher at the University of Arizona, specializing in human genetics.

The SCN8A Clinicians Network is Co-led by Dr. John Schreiber, a leading SCN8A clinician and Director of the Epilepsy Genetics Program at Children’s National in D.C.

JayEtta Hecker, Co-Founder of the International SCN8A Alliance, is serving as the process guide for the Diagnosis & Treatment Guidelines process.

For a detailed discussion of the process and outcome of efforts to develop a standard of care for the Dravet Syndrome, see this article

We will keep the community informed as the work progresses – and as opportunities arise for specific input and/or questions.