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Families fight for rare epilepsy breakthrough and find it through a unique collaboration

Washington, D.C, May 28, 2024: The International SCN8A Alliance is proud to announce a breakthrough in rare epilepsy care—and a collaboration model that can lead to better outcomes in other rare diseases.

In the United States alone, approximately one in 10 people grapple with one of over 10,000 rare diseases, including more than 1,000 identified rare epilepsies. Despite the enormous impact of these conditions, fewer than 5% of them have an approved treatment, often leaving clinicians without evidence-based guidance for care.

Rare epilepsy devastates countless lives and families, with many children suffering from seizures that are unresponsive to existing medications. Rare epilepsies, like SCN8A-related epilepsy, often come with a host of severe co-occurring impairments, such as intellectual disabilities, respiratory failures, and gastrointestinal complications. In the face of these challenges, parents and caregivers have taken the lead in advocating for advancements in care.

Today, the International SCN8A Alliance, a family-led organization dedicated to improving the lives of children with SCN8A-related disorders, is announcing the release of the first global consensus guidelines for evidence-based diagnosis, treatment, and management of SCN8A-related disorders.

“Our organization is thrilled to lead this groundbreaking effort,” said Gabi Conecker, Co-founder and Executive Director of the International SCN8A Alliance—and mother to 11-year-old SCN8A patient, Elliott. “These guidelines will provide crucial support to clinicians and families, ensuring better care and outcomes for those affected by SCN8A.”

The global initiative brought together 30 clinicians and 13 families from 16 countries across five continents. Utilizing a rigorous modified Delphi process, they developed consensus in areas where scientific evidence remains incomplete, combining global experiences in managing and treating this catastrophic disorder.

The new guidelines promise to facilitate earlier diagnosis, enhance understanding of the disorder’s varied phenotypes, and establish best practices for treatment and care.

Two pivotal articles are being published today in Epilepsia, a leading peer-reviewed journal, detailing the results of the more than two-year effort to establish consensus amongst families and leading global clinicians on the diagnosis, phenotypes, treatment, comorbidities, prognosis, and counseling for 700+ individuals affected by SCN8A mutations around the world.

As of Tuesday, May 28th you can find both Epilepsia articles here:

Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders

Global modified‐Delphi consensus on comorbidities and prognosis of SCN8A‐related epilepsy and/or neurodevelopmental disorders

The release of these guidelines is just the beginning. The International SCN8A Alliance is leading a worldwide effort to educate clinicians and families, providing hope for improved treatments and outcomes for everyone affected by SCN8A.

Last week Conecker led a Grand Rounds briefing on the consensus guidelines at Harvard & Boston Children’s Hospital and this week heads to Madrid to brief clinicians, researchers, and families on the important findings. This initiative not only offers a model for effective leadership in rare disease advocacy but also exemplifies the power of collaboration between scientists and families in advancing scientific understanding and care for rare disorders. To learn more about the SCN8A consensus guidelines, visit:

About the International SCN8A Alliance

The International SCN8A Alliance is a patient advocacy organization dedicated to improving the lives of individuals affected by SCN8A-related disorders. Founded by a parent of an SCN8A patient, her mother, and a pioneering geneticist who is also an SCN8A parent, the Alliance advances scientific research, provides family support, and develops evidence-based treatment guidelines. With a global network of clinicians and families, the Alliance is committed to fostering collaboration and driving progress in rare epilepsy care.

Media Contact:

International SCN8A Alliance

JayEtta Hecker

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