An Update on the International SCN8A Alliance’s Effort to Develop the First Global Consensus on Diagnosis & Treatment Guidelines for SCN8A
and Ways to Get Involved!
In 2020, the International SCN8A Alliance formed the SCN8A Clinicians Network with the goal of working collaboratively to learn from the clinical experiences of those treating people living with SCN8A. We soon began the work of bringing together a team of pediatric neurologists from around the world to develop the first-ever diagnosis and treatment guidelines for SCN8A. As any SCN8A caregiver can tell you, nearly every treatment decision and medication change is a guess. For those of us who are lucky enough to have doctors who do some research before making treatment suggestions even then there aren’t clear steps. Even the best doctors will say: We could try X med next. It could make things worse. It could make things better. We just don’t know.
Over the last year we have been working diligently to do the intensive groundwork necessary to advance this process including an exhaustive review of the literature. We recruited many of the leading pediatric neurologists from around the world, representing 5 continents, alongside a diverse group of SCN8A caregivers who over the coming year, will be working to develop and gather consensus on these guidelines.
This effort is being undertaken in the hopes that no matter where a child or adult with SCN8A is diagnosed or who their doctor is, this resource will be available to help them use the best possible data and experiences to make data-driven decisions about treatment. The hope is that the earlier someone is put on the best possible treatment, there can be improved overall development.
The core working group has broken into three subgroups reviewing the literature and evaluating data from Dr. Hammer’s 7 year longitudinal SCN8A registry, Elena Gardella/Rikke Möller/Katrine Johannesen’s database and from the 150 Chinese families the 8AAlliance recently linked with. There are five core areas we hope to find consensus on to bring the best evidence to any clinician who is treating those with SCN8A, no matter where the patient lives/gets treatment. The key questions are:
1. Diagnosis: how can we get an SCN8A diagnosis as quickly as possible
2. Genotype-Phenotype: can we say whether there are links between the mutation (genotype) someone has and their physical characteristics (phenotype)?
3. Treatment: what medications work best for different groups of patients?
4. Comorbidities: what other issues do we see in our loved ones with SCN8A?
5. Prognosis: can we determine the likely course of the disease or outcomes for those with SCN8A?
We have over 30 people participating in this process including an amazing group of SCN8A caregivers who have stepped up to represent the community. These family members bring their experiences, perspectives and priorities to the table which is already proving incredibly valuable in our meetings as the doctors, even though they try, cannot grasp the full breadth of challenges that our children and families face.
While your family representatives are doing an amazing job of representing the wider community, at this critical stage in the process we want ALL families to have the opportunity to contribute their diverse experiences.
Some of you may recall that before we first launched the Alliance Clinicians Network back in 2020, we surveyed families about the major issues and concerns they had in working with their neurologists and highlighted areas where they’d like to see improvements. The results of that survey highlighted that families were concerned deeply about a wide range of care, treatment and prognosis issues. The graphic below highlights core priority areas for improvement in SCN8A care—reflecting the concerns these families shared—which are now the key subgroup teams of the Diagnosis & Treatment Guidelines.
Over the next couple of weeks, we will be sharing some brief surveys with our Caregiver Facebook community to collect your experiences and priorities in the five areas of focus of the working groups listed above. Of course, your participation is entirely optional and no personal identifying data will be collected or shared. We will share the results as soon as we collate it with both all of you and the Diagnosis and Treatment Guideline working group.
Because SCN8A is still so new, rare, and there are so many diverse experiences, there is a lot missing from the published literature. For example, the literature doesn’t mention respiratory challenges or accurately reflect the extensive GI challenges many families encounter. Your participation is extremely valuable and can maximize the likelihood of your priorities being included in the final guidelines. With strong and clear input from families we are hopeful that the guidelines will reflect the most important areas for improving the care of those living with SCN8A.
If you have questions, want to get involved, reach out to gabi@SCN8AAlliance.org.
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