NYU Epilepsy Center Partners with Dravet.org on SUDEP in Dravet Syndrome Children Study

New York University (NYU) Epilepsy Center is partnering with Dravet.org on a new study to determine whether the sudden death of some children with Dravet syndrome is due to epilepsy or other causes. The study will collect information worldwide from parents of children with Dravet syndrome who have died suddenly. It is estimated that a much higher percentage (16%) of children with Dravet syndrome die early (before 18) than in the general epilepsy population.

Says the Center Director, Dr. Orrin Devinsky, "SUDEP may be the leading cause of death in Dravet Syndrome. This study will help us to identify factors that predispose some people towards SUDEP and other factors that may be protective. Hopefully, this information will translate into saving lives in the future."

Dravet.org has agreed to be the recruiter/clearinghouse for potential study participants. The initial interview with these families will be conducted via telephone with Joan Skluzacek, the founder of Dravet.org, to ascertain eligibility to participate in the Study. Information about eligible families will then be forwarded to the NYU Epilepsy Center and researchers will conduct their own follow up over the next year. A report is expected within a year of final data collection. This study is approved by the NYU Langone Medical Center Institutional Review Board.

Participants are asked for a limited time commitment. Dravet.org knows that our parents have been waiting for many years to get much-needed answers. Now we have a way for our children's lives to make a significant difference in the lives of future children with Dravet syndrome. Advances in Dravet syndrome research may also help people with other forms of epilepsy.

Dravet syndrome most often results from mutations in the SCN1A gene. SUDEP, or sudden unexplained death in epilepsy, is the leading cause of death in people with Dravet syndrome, accounting for more than half of the mortality. SUDEP excludes other causes such as trauma, drowning, or status epilepticus, but there is often evidence of an associated seizure.

This syndrome is often not recognized by coroners, medical examiners, and physicians, who are unaware of the disorder and clinical criteria. Factors, such as post-seizure shutdown of brain function, respiratory impairment, and cardiac dysfunction are implicated in SUDEP but much remains to be learned about its exact mechanisms. This is what makes this new study so timely and so promising.

The study will assess the incidence, risk factors and pathophysiologic mechanisms leading to SUDEP with participants drawn from our Dravet.org population worldwide. Researchers at NYU will review the participants' children's medical records, autopsy reports, videoEEG recording, MR-images, and results of genetic testing. The control group will be children with Dravet syndrome who are living.

If you have questions or are interested in participating in this Study, please contact Joan Skluzacek at (443) 607-8267, sudepstudy@dravet.org.

2011 Research Award Announced

We are very pleased to announce that after an industry-standard objective and scientific scoring process, the IDEA League Scientific Review Committee has awarded the 2011 Research Award to Dr. Beverly Wical at Gillette Children’s Specialty Healthcare in St. Paul, Minnesota.

This two-year $30,000 award was funded in honor of DEREK RUDAWSKY through the loving efforts of his parents, family and friends who organize and participate in the annual DEREK’S DASH. 100% of their donations goes directly to Dr. Wical’s study, not a single penny is taken out by the IDEA League.

Dr. Wical’s study, Verapamil as Adjunctive Seizure Therapy for Children with Dravet Syndrome, seeks to assess the efficacy of verapamil as an adjunctive therapy for improving seizure control (generalized tonic-clonic, secondarily generalized tonic-clonic, and clonic or hemiclonic) and to assess signs of dysautonomia before and after treatment. Verapamil, a calcium channel blocking agent, may play a role altering autonomic tone abnormalities in children with Dravet Syndrome and may be a part of the mechanism that leads to improved seizure control. This will serve as a pilot study for gathering data in hopes of extending and expanding positive results with the goal of leading to a larger, controlled trial.

In addition, the 2010 IDEA League Research Award winner, Dr. Jing-Qyong Kang of Vanderbilt University Medical Center in Nashville, Tennessee has been approved for year two of her study, Toward understanding the GABRG2 truncation mutations associated with epilepsy and Dravet syndrome. Dr. Kang’s study seeks to understand 1) why the truncation mutations in GABAA receptor g2 subunit cause epilepsies and 2) why some mutations cause mild febrile seizures, while the others cause more severe epilepsy, like Dravet syndrome. The characterization of the altered signaling pathways of these misrouted and misfolded GABAA receptors which result from truncation mutations may help to 1) understand why Dravet syndrome is different than other mild epilepsies caused by the same gene mutations? 2) elucidate the “vaccine damage” in those children with Dravet syndrome who had an encephalopathy with refractory seizures and intellectual impairment after vaccination; 3) solve the long time enigma of the relationship between hippocampal atrophy and epilepsy (“which comes first, the chicken or the egg?”); 3) identify a potential novel therapy for treating Dravet syndrome.

Progress reports will be published in upcoming newsletters. Our sincere thanks to all donors who worked—and continue to work—so hard to raise money to support research to further our understanding of treating Dravet syndrome.