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.
Click here to register for participation in this study:
If you have questions please contact Joan Skluzacek at (866-828-1843) or at firstname.lastname@example.org.
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