Brief Overview of Statement to the FDA: SCN8A Families Support for New Disease Altering Medications

Wishes for Elliott and the Shay Emma Hammer Research Foundation recently collaborated to file a submission with the Food and Drug Administration (FDA) in support of the urgent need for new disease altering medications to improve the lives of children living with SCN8A epilepsy.

The Food and Drug Administration is directed by Congress to take into account the views and concerns of patients and caregivers as they evaluate Investigative New Drug (IND) proposals. While we participated in the Patient Focused Drug Development Meeting hosted in 2019 by the Lennox-Gastaut Foundation, broadened to include all DEEs (i.e. epilepsies accompanied by notable developmental delays), we wanted to be sure FDA had the opportunity to hear directly from SCN8A families.

Our submission has been timed to coincide with the recent IND submission by Neurocrine Biosciences for the first drug specifically designed to treat those with SCN8A mutations.

The submission included three major sections:

1. Data demonstrating that children with SCN8A are among the most severely affected DEEs

2. How our organizations are working with families committed to supporting the development of new treatments, and

3. Family testimonials underscoring the urgent call for new disease-altering SCN8A treatments.

REN and SCN8A Registry Data Demonstrate Children with SCN8A are Among the Most Severely Affected DEEs

We present data from a Rare Epilepsy Network (REN) survey in which 25 SCN8A families participated (between 2016-2018). On several of the most significant factors, the SCN8A children were the most severely affected, exceeding both the average for all rare epilepsy families including the Dravet Syndrome and LGS populations. SCN8a participants reported the highest seizure frequency, the highest rate of discontinued medications and the highest incidence of severe comorbidities (including never speaking a two word sentence (60%), never walking (48%), never sitting (40%), and cognitive delays (40%)).

The representativeness of the REN data is limited by the relatively low number of SCN8A participants. However, the dedicated SCN8A registry that has been collecting data on the condition, seizure history, medications response, development and more since 2015 confirms the severity of impact on children with SCN8A epilepsy. We provided data from the SCN8A Registry, covering 125 participants, which confirmed that seizures of over 50% of children with SCN8A epilepsy were unresponsive to medication (refractory), far higher than the average in epilepsy of about 30% among overall epilepsies. Related to that, there is a low rate of any medications effectively reducing the wide variety of seizures experienced by SCN8A children. And only 16% of SCN8A children report age appropriate development.

Families Working Together to Get Answers

The core mission of both Wishes for Elliott (est. 2014) and the Shay Emma Hammer Research Foundation (SEHRF – est. 2019) is to accelerate the scientific understanding of SCN8A to bring hope, answers and better treatments for children and families so devastated by this disorder.

Recently, Wishes for Elliott and SEHRF formalized their longstanding partnership to collaborate on developing and expanding the SCN8A registry and other initiatives to accelerate SCN8A research and development of new treatments for SCN8A epilepsy. A major initiative is working with a community of Regional SCN8A Family Networks across the United States to promote and learn from the SCN8A registry and collaborate to accelerate the pace of new disease altering SCN8A therapies. This project is known as FAST or Families Advancing SCN8A Treatments.

Family Stories Underscore the Urgent Need for Innovative, Disease-Altering Treatments for SCN8A

Our community has no higher priority than accelerating the path to safe and effective disease-altering treatments designed specifically for SCN8A. We recognize this is the only path to significantly improving the quality of life of our children.


We are very hopeful about the active exploration by pharmaceutical companies for innovative new treatments for SCN8A. The active engagement by so many SCN8A families participating in and supporting the SCN8A registry has provided critical data to pharmaceutical companies on the varying conditions of our children, challenges with medications, the many comorbidities they battle, and their overall quality of life – all critical to the design of successful clinical trials.

But data alone cannot tell the full story. So many of our children are struggling for their lives on a daily basis and the high rate of mortality in our children is simply intolerable. Six families have shared their pain and hope in deeply personal testimonials directed at FDA officials. We thank each of them for sharing their stories, including two families who have suffered the unbearable loss of their children to SCN8A-related epilepsy.

Consider joining us in our efforts to collaborate on a wide range of scientific efforts to accelerate the delivery of disease-altering treatments for all our SCN8A children.

For information on how to get involved contact us at or

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