TCSF Funded Research Grants

The Cute Syndrome Foundation is thrilled to support Dr. Lal’s research team at UTHealth Houston working to better understand the full spectrum of SCN8A-related disorders beyond epilepsy. While seizures, intellectual disability, and developmental delays are commonly studied, other important aspects of daily life—including communication, motor skills, behavior, and daily living abilities—are less frequently explored.

The study began at TCSF’s 2024 SCN8A Clinician, Researcher, and Family Gathering, where participants underwent neurological examinations and wore advanced sensor-equipped watches to continuously measure movement and other physiological data. Researchers also used detailed video assessments, parent surveys, and interviews to capture a more complete picture of each participant’s abilities and challenges. Unaffected siblings participated as a control group.

By combining traditional clinical assessments with wearable technology and other objective measures, the research team hopes to better define the clinical spectrum of SCN8A-related disorders and identify reliable biomarkers of disease severity. These tools could ultimately help families and clinicians more accurately track disease progression, evaluate treatments, and develop more personalized approaches to care.

Thanks to the generous support from the Cute Syndrome Foundation, our team was able to meet and assess patients directly, pioneering new ways to objectively measure disease severity in SCN8A-related disorders. Traditional methods often miss crucial aspects of daily life impacted by SCN8A, such as movement, behavior, and communication. With the Foundation’s funding, we were able to apply our innovative approaches, including wearable devices and detailed video assessments, to better capture these important dimensions. These efforts will allow us to understand each patient’s unique experience more accurately, ultimately informing personalized care and improving quality of life.

 

The potential impact of this project is significant for the SCN8A community. By accurately defining the clinical spectrum of SCN8A disorders and identifying reliable biomarkers, our research could transform how families and doctors track disease progression, evaluate treatments, and improve patient outcomes. We’re immensely grateful for the Cute Syndrome Foundation’s partnership in this ongoing vital work!

The Cute Syndrome Foundation is thrilled to announce the awarding of an SCN8A seed grant to Chris Dulla, PhD, and Madeleine Oudin, PhD, of Tufts University, along with Chris Burge, PhD, of MIT for “Validating a new mouse model of SCN8A infantile spasms and epilepsy”. This grant has been supported in partnership with the American Epilepsy Society and the Cute Syndrome Foundation.

These funds will support PhD student Haley Dame and her work in characterizing the new SCN8A mouse model their lab has developed, as well as testing out the impact of disease-correcting ASOs for SCN8A.

This project holds a special significance for Dr. Oudin and Dr. Burge as their daughter Margot is affected by SCN8A epilepsy.

Dr. Oudin said of their work:
​“We are really excited to be starting new SCN8A research at Tufts University. While Prof. Chris Dulla has been studying epilepsy for 20 years, he has never worked on ion channel-based epilepsies. The AES Seed grant gives him the opportunity to bring his extensive knowledge and expertise to the SCN8A community.”

The Cute Syndrome Foundation is thrilled to announce the granting of a Rare Epilepsy Partnership Award to Jillian McKee, MD, PhD, at The Children’s Hospital of Philadelphia for her project titled “Reconstructing the longitudinal disease history in SCN8A-related disorders”.

​The one-year grant is funded in partnership with CURE Epilepsy, whose portion is sponsored by the Robert Withrow Wier Fund.

The Cute Syndrome Foundation is thrilled to share the awarding of a research grant to Ian Wenker, Ph.D, of the University of Virginia to further research related to SUDEP in SCN8A epilepsy. Sudden Unexpected Death in Epilepsy (SUDEP) is a devastating and unfortunately all too common outcome for those with epilepsy. Patients with SCN8A epilepsy have a heightened risk of SUDEP compared to the general epilepsy population.
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Dr. Wenker said of his work:
“There is increasing evidence that apnea (breathing cessation) is the primary cause of death from SUDEP in many cases. In a mouse model of SCN8A epilepsy, I have shown that apnea occurs during tonic seizures and SUDEP occurs when breathing does not recover postictally. I have also found that the main breathing muscle responsible for inhalation (i.e., the diaphragm) is tonically contracted during apnea.

I have now also shown that inhibition of the forebrain does not affect this apnea, and now will investigate relevant brainstem neuronal groups that regulate breathing. The normal rhythm and pattern of breathing (i.e., alternating inspiratory and expiratory phases) is created by what is known as the “inspiratory oscillator” in the ventral medulla oblongata. This has led me to hypothesize that apnea during tonic seizures occurs due to tonic inspiratory activity generated by pathological tonic activation of the inspiratory oscillator.

Thus, I intend to determine the state of the inspiratory oscillator during apnea. I will test whether tonic inspiratory activity causes apnea by optogenetically stimulating the Bötzinger Complex, a group of expiratory neurons that powerfully inhibit the inspiratory oscillator, which I anticipate will cause expiration and restore normal inspiratory oscillation. The identification of the neural circuitry that causes this potentially-fatal apnea will serve as targets for future SUDEP prevention therapies.”

The Cute Syndrome Foundation and SCN8A Italia are thrilled to announce that in late 2020 we co-awarded a €9,000 Euro grant to the Danish Epilepsy Center and Primary Investigator Dr. Elena Gardella to support their 430-patient registry and natural disease evolution. The grant funds the cost of a research fellow, Francesca Furia, to update information on approximately 400 of the 430 patients included in their SCN8A Registry. We are so thrilled to support the important work being undertaken by Dr. Gardella and the team at the Danish Epilepsy Center! We are also thrilled that the collaborative partnership that we have established between TCSF and our European SCN8A partners is yielding such positive and measurable results already.

The Cute Syndrome Foundation is thrilled to share the awarding of a clinical research grant, originally announced at our 2018 SCN8A Clinician, Researcher, and Family Gathering, to Dr. John Schreiber and Children’s National. The vision for this grant developed after the devastating loss of two infants in our SCN8A community last fall, and we are grateful to Dr. Schreiber for working with us to look for ways to improve access to expert advice in the treatment of individuals with SCN8A.
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The official announcement follows:
Children’s National Medical Center and The Cute Syndrome Foundation are delighted to enter a 6-month pilot research project to evaluate education and access to expert care for SCN8A. Led by Dr. John Schreiber, Neurologist and Assistant Professor of Neurology and Pediatrics at George Washington University, Children’s National will develop a focused effort to provide families and clinicians with the Clinician Information and Reference Guide—developed by The Cute Syndrome Foundation— and attempt to uncover the barriers to accessing expert advice. The study will result in a better understanding of those factors that prevent access to consensus recommendations and expert care. It will also increase provider knowledge of SCN8A-related disorders, improve utilization of appropriate anti-seizure therapies, and may eventually reduce mortality. As the first-ever study of its kind, this pilot project will pave the way for future interventions that will raise the profile of SCN8A-related disorders, facilitate collaborative care and research, improve patient outcomes, and reduce mortality.

Thank you, Dr. Schreiber, for your dedication to the SCN8A community!

2020 Update: Impact Report

In January 2016, as a collaborative effort with our Brazilian partners, Ajude o Rafa, The Cute Syndrome Foundation awarded $25,000 the 2016 SCN8A Epilepsy Research Grant to Dr Miriam Meisler of the University of Michigan.

Dr. Meisler said of her work:
“The discovery that mutations of SCN8A are responsible for many cases of pediatric encephalopathy was a very important step forward towards identification of effective treatment. Unfortunately, many patients do not respond well to existing medications.

In order to move forward, we are working on two experimental systems to identify the
functional effects of different mutations and to test the effectiveness of new treatments.  First, mutant channels are tested in cultured neuron-derived cells to find out which aspect of channel function is abnormal.  Second, we generate mouse models of selected mutations representing the three functional classes observed thus far, to find out which neurons are most susceptible and to provide a pre-clinical test system for novel
treatments.

Both of these research directions will contribute to the development of the next generation of treatment for children with these devastating genetic disorders caused by mutations of SCN8A.”