Remembering the loved ones lost to SUDEP

Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of epilepsy-related mortality and the second most common cause of sudden death in children. Sadly, many are still unaware of SUDEP and its risk factors, and even today some neurologists are hesitant to discuss it. CURE is a groundbreaking leader in SUDEP research efforts and has persuaded the government and other organizations to focus on this devastating consequence of epilepsy.

We must find a way to end SUDEP. Your ongoing support ensures that CURE can continue investing in transformative research that saves lives and moves us closer to a cure for epilepsy. 

Erika was 18 years old when she had her first seizure. By age 29, she was seemingly seizure free, successful at work, and happy in life. She loved nature, riding horses, and hiking in New England. Erika adored her fiance, Matthew, and their relationship was nothing short of a fairy tale love story. Then, two months before her wedding, a seizure took her life. Erika’s death was ruled as SUDEP, or Sudden Unexpected Death in Epilepsy.

Chris was a smart, generous, and thoughtful 21-year-old. But he struggled with epilepsy daily: the mind-numbing medications and side effects, short-term memory loss, and lethargy. Chris lived with constant unpredictability. When and where would the next seizure happen? Would they ever be controlled? Chris never got those answers. Ten weeks shy of his college graduation, he died of an epileptic seizure. SUDEP was the cause of death. Before his passing, his family had no idea that Chris was at risk of losing his life to SUDEP, or that epilepsy kills thousands of Americans in this same way each year.

This holiday season, please join us in honoring the memory of Erika, Chris, and all the loved ones lost too soon to epilepsy. We hope you will support CURE’s work to discover the causes, find preventative strategies, and increase awareness about SUDEP. . . and help save lives.

CURE Grantee Awards Announced

CURE is pleased to announce new recipients of funding for its Sleep & Epilepsy Award, Taking Flight Award, and Innovator Award grants. CURE presents these grants for novel research projects that focus on finding the cures for epilepsy and address the goal of “no seizures, no side-effects, end epilepsy” Specifically, CURE funds research that works to understand and prevent epilepsy, identify disease modifying or eliminating therapies, eliminate SUDEP (Sudden Unexpected Death in Epilepsy), and reverse deficits caused by frequent seizures. These researchers are added to the long list of distinguished CURE grantees helping pave the way to a cure for epilepsy. Since its inception in 1998, CURE has been at the forefront of epilepsy research, raising more than $50 million to fund over 200 cutting-edge projects in 15 countries around the world.

 

SLEEP & EPILEPSY AWARD GRANTEE

Franck Kalume, PhD
Seattle Children’s Hospital

Non-pharmacological manipulations of sleep and circadian rhythms to prevent seizures and sudden death in mouse models of refractory epilepsy

Acute and chronic sleep and circadian disruptions are commonly present in people with treatment-resistant epilepsies. They are linked to several negative consequences, including cognitive impairment, emotional disorders, and poor seizure control and quality of life. In planned studies, Dr. Kalume and his team will use well-established genetic mouse models of human refractory epilepsies, namely the Dravet syndrome and focal cortical dysplasia. First, they will correct sleep abnormality by manipulations of daily feeding, locomotor activity, or environmental temperature. Then, they will examine the impacts of these interventions on the course of epilepsy and sudden unexpected death phenotypes.

This award of $220,000 allows researchers to study the connection between sleep and epilepsy, and translate findings to significantly help patients. This Sleep and Epilepsy Award is possible because of support from The BAND Foundation.

 

TAKING FLIGHT AWARD GRANTEES

Gary Brennan, PhD
Royal College of Surgeons in Ireland

Towards the understanding of the epitranscriptome in epileptogenesis

The molecular mechanisms which drive the development of epilepsy following epilepsy-inciting events are still being unravelled. Once thought to merely represent the DNA code and facilitate translation, RNA has more recently been shown to be involved in numerous cellular and disease processes through the discovery of non-coding RNAs, regulatory long non-coding-RNA, circular RNAs, etc. Similarly, the regulation of RNA itself has been shown to be extremely complex. Analogous to DNA methylation and phosphorylation of proteins, RNAs have been shown to be subjected to complex regulation which determines their function. This work aims to characterise RNA regulation and function in pre-clinical mouse models of epilepsy and in human epileptic tissue, and understand how aberrant regulation of RNA can contribute to the development of epilepsy. It is hoped that gaining a more thorough understanding of the molecular drivers of epileptogenesis will allow the identification of novel anti-epileptogenic targets.

 

William Nobis, MD, PhD
Northwestern University

Evaluation of how extended amygdala control of the autonomic nervous system us altered in epilepsy and its implications for SUDEP

It has proven difficult to link the myriad proposed features leading to the cardiac and respiratory decline in sudden unexplained death in epilepsy (SUDEP). This project aims to identify a specific neuronal subtype in a deep brain nucleus which may be critical in cardiorespiratory control, providing a better understanding of the mechanism of SUDEP. The goal is first to identify that these neurons control cardiorespiratory functions and characterize them. Finally, we will verify that these neurons are activated in a genetic model of epilepsy in the hopes that further examination of these neurons might provide a potential therapeutic target to prevent SUDEP.

 

Flavia Vitale, PhD
University of Pennsylvania

A tunable, controllable microarray for mapping epileptic brain networks

Localization-related epilepsies account for the majority of patients with seizures, many of whom do not respond to medications. Surgery or treatment with implantable devices have the potential to make many patients seizure-free, but results are limited by our inability to precisely localize brain areas where seizures begin. Dr. Vitale has developed a new class of very small, flexible electrodes that can be independently controlled after they are implanted, allowing surgeons to safely map epileptic networks in the brain with high precision. With support from CURE, Dr. Vitale will build these new devices and test them in animal models of focal epilepsy, to detect and map seizure generation and spread. If successful, this exciting new technology could precisely localize seizure networks, and allow clinicians to focally ablate or suppress them with unprecedented accuracy, exactly where they are generated.

The Taking Flight Award of $100,000 seeks to promote the careers of young epilepsy investigators to allow them to develop a research focus independent of their mentor(s).

 

INNOVATOR AWARD GRANTEE

Tore Eid, MD, PhD
Yale University

Role of gut microbiota in epilepsy

Nearly one thousand different types of bacteria colonize the human gut.  Some of these bacteria are helpful to us, while others can cause disease.  Obesity, diabetes, stomach ulcers and Parkinson’s disease have all been linked to changes in the gut bacterial flora.  However, little is known about the role of the gut bacteria in epilepsy.  The goal in this research is to investigate whether certain types of gut bacteria can stop or trigger seizures and how they are able to do so.  If successful, our research could pave the way for completely new treatments for epilepsy by safely manipulating the gut bacteria using dietary intervention, probiotics, or short courses of antibiotics.

This $50,000 award explores a highly innovative new concept or untested theory that has the potential to reveal entirely new avenues for investigation in epilepsy research.

CURE statement in support of new AAN/AES SUDEP practice guidelines

CURE supports the new AAN / AES practice guidelines on SUDEP and strongly urges patients, caregivers and physicians to openly discuss this devastating outcome of epilepsy. CURE has been a leader in increasing the awareness of SUDEP and a pioneer in supporting research that has led to a better understanding of the underlying causes of SUDEP. However, more research is urgently needed to understand the incidence of SUDEP across the epilepsies and identify effective prevention strategies that save lives.

 

Laura Lubbers, PhD
Chief Scientific Officer, CURE

 

Read the Advocate Statement

See the Guidelines

Learn more about SUDEP

Families, Doctors, Advocates Urgently Seeking Answers in Epilepsy Deaths

WASHINGTON, D.C. – One in 26 Americans will develop epilepsy over the course of a lifetime. In advance of the June 23-26 Partners Against Mortality in Epilepsy (PAME) Conference, epilepsy experts and people who face seizures are sounding the alarm on a greatly underestimated problem—epilepsy-related deaths. Although epilepsy affects 3 million Americans, communication and understanding around the risk of mortality remains low, creating a blind spot for caregivers that can prove devastating.

The most common cause of death in epilepsy is Sudden Unexpected Death in Epilepsy (SUDEP), which takes more lives annually in the United States than fires and sudden infant death syndrome combined. Cases of SUDEP occur without warning in otherwise healthy people living with epilepsy, and when no other cause of death is found.

“No words can describe the horror and devastation of unexpectedly losing a child or loved one to epilepsy. SUDEP has been a silent killer for far too long. PAME, a unique and dynamic collaboration of families and professional, is calling on the medical community to confront and disclose all risks of epilepsy, including SUDEP, so that individuals and families are empowered with information to make safe and informed decisions,” says Gardiner Lapham, bereaved mother, PAME Co-Chair, and Citizens United for Research in Epilepsy (CURE) board member.

Beyond SUDEP, epilepsy-related deaths also occur from status epilepticus (prolonged seizures), suicide, and fatal accidents that occur during a seizure such as drowning, burning, choking, or falling. Yet, epilepsy is often not listed as a cause of death on death certificates, making it difficult for public health officials to quantify and draw attention to the problem. Without accurate, systematic data to count epilepsy deaths, doctors and researchers are hampered in their goal of understanding what circumstances make someone more vulnerable. The lack of data also challenges clinicians in deciding what to disclose to patients and families about their level of risk and in advising them on how best to prevent SUDEP.

To increase understanding of mortality in epilepsy, the PAME conference will unite physicians, scientists, health care professionals, people with epilepsy, caregivers, and bereaved family members from around the world for a unique conference that facilitates collaboration and spurs action. The 2016 PAME Conference will be held June 23-26 in Alexandria, VA. To learn more about the PAME conference or to register, please visit http://pame.aesnet.org.

Now in its third meeting, PAME offers more than 50 presentations on the latest research in epilepsy mortality through panels and educational sessions designed to close the gaps in knowledge and understanding including:

  • Mortality in people with epilepsy – Studies suggest that epilepsy-related deaths are under-reported. A panel will explore ways to improve epidemiology and surveillance, increase data collection and explore populations that aren’t typically counted.
  • Factors that predispose people to die from epilepsy – The risk factors and SUDEP remain unclear. Researchers have proposed explanations including irregular heart rhythm and genetic predisposition to accidental suffocation during sleep. A panel of leading genetic and epilepsy experts explores what we know and don’t know about the biomarkers and other risk factors of death in epilepsy.
  • Genetic analysis and discovery in SUDEP – Much of the research into the genetic risks of SUDEP has focused on single gene mutations that cause both epilepsy and sudden death. New research is emerging linking these genes to SUDEP.
  • Options for prevention – Though much remains to be discovered about underlying causal mechanisms of mortality, there are prevention strategies available to us now that we can and should employ. Areas to be explored include the latest in device research, upcoming practice guidelines and patient education needs.

 

Major contributing organizations include the American Epilepsy Society (AES), Citizens United for Research in Epilepsy (CURE), the Epilepsy Foundation (EF), the Danny Did Foundation, and the Patrick Ring Foundation. Discounted rates for early registration end on May 16.

For Immediate Release
April 27, 2016
Natalie Judd
natalie@bigvoicecomm.com or 203-389-5223

Few Answers in Understanding Death from Epilepsy

WASHINGTON, D.C.—Epilepsy-related deaths are a significant public health problem, yet are poorly understood and often overlooked.  People with epilepsy are two to three times more likely to die prematurely than people without the disease. The greatest cause of epilepsy-related deaths, Sudden Unexpected Death in Epilepsy (SUDEP), kills more than 1 out of 1,000 people with epilepsy each year in the U.S. When seizures are uncontrolled, the risk of SUDEP increases to more than 1 out of 150.

To increase understanding of mortality in epilepsy, including SUDEP, Partners Against Mortality in Epilepsy (PAME) unites physicians, scientists, health care professionals, people with epilepsy, caregivers and bereaved family members for a unique conference that facilitates collaboration and spurs action. The 2016 PAME Conference will be held June 23-26, in Alexandria, Va. To learn more about the PAME conference or to register, please visit http://pame.aesnet.org.

PAME Conference highlights include:

  • Mortality in people with epilepsy – improving epidemiology and surveillance
  • How SUDEP is different in children
  • Factors that predispose people to die from epilepsy
  • Gene analysis and discovery in SUDEP
  • Autoimmune diseases and non-SUDEP causes
  • Events during and after seizures that cause SUDEP
  • How to support families in their grief
  • Future direction of research and prevention

The PAME Conference offers the latest research in epilepsy mortality through scientific posters and educational sessions presented by leading U.S. and international experts and discussions that are designed to close the gaps in knowledge and understanding. In addition to diverse educational courses, the PAME meeting offers advocacy opportunities to advance research and raise public awareness.

This conference has been conceived and planned by a large and diverse group of professionals, advocates and family members. Major contributing organizations include the American Epilepsy Society (AES)Citizens United for Research in Epilepsy (CURE)Epilepsy Foundation (EF)the Danny Did Foundation, and the Patrick Ring Foundation. To learn more about the PAME conference, visit http://pame.aesnet.org.

Sudden death in epilepsy: Researchers finger possible cause

Sudden death, a mysterious and devastating outcome of epilepsy, could result from a brain stem shutdown following a seizure, researchers report today in Science Translational Medicine. Although the idea is still preliminary, it’s engendering hope that neurologists are one step closer to intervening before death strikes.

Sudden unexpected death in epilepsy (SUDEP) has long bedeviled doctors and left heartbroken families in its wake. “It’s as big a mystery as epilepsy itself,” says Jeffrey Noebels, a neurologist at Baylor College of Medicine in Houston, Texas, and the senior author of the new paper. As its name suggests, SUDEP attacks without warning: People with epilepsy are found dead, often following a seizure, sometimes face down in bed. Many are young—the median age is 20—and patients with uncontrolled generalized seizures, the most severe type, are at highest risk. About 3000 people are thought to die of SUDEP each year in the United States. And doctors have struggled to understand why. “How can you have seizures your whole life, and all of a sudden, it’s your last one?” Noebels asks.

In 2013, an international team of researchers described its study of epilepsy patients who had died while on hospital monitoring units. In 10 SUDEP cases for which they had the patients’ heart function and breathing patterns, the authors found that the patients’ cardiorespiratory systems collapsed over several minutes, and their brain activity was severely depressed. “Their EEG went flat after a seizure,” says Stephan Schuele, an epileptologist at Northwestern University Feinberg School of Medicine in Chicago, Illinois, who wasn’t involved in the study.

Read the full article

NINDS Announcement of Center Without Walls Signals Onset of Exciting Period in Epilepsy Research

The creation of a virtual Center Without Walls to study sudden unexpected death in epilepsy (SUDEP) was announced by the US National Institute of Neurological Disorders and Stroke (NINDS) on Dec 8, 2014. For the epilepsy community—at that time gathered in Seattle, WA, USA, for the Annual Meeting of the American Epilepsy Society—the announcement of this new initiative signals the onset of an exciting period in epilepsy research. Large collaborative research initiatives are needed to shed light on the risk factors and mechanisms that can lead from epilepsy to premature death, and the creation of this new Center Without Walls will accelerate progress over the coming year.

Nine research teams form the new Center Without Walls, with a budget of less than US$6 million at present. Investigators will share data and resources to address SUDEP from several angles: from the study of underlying brainstem pathways to the associated respiratory and cardiac dysfunction, and from neuropathological analyses to the assessment of genetic susceptibility. NINDS should be commended for prioritising this area of epilepsy research. The risk of sudden death is about 20-times higher in people with epilepsy than in the general population. Incidence ranges from 0·09 per 1000 person-years in newly diagnosed patients to 9·3 per 1000 person-years in candidates for epilepsy surgery. However, sudden death is a major concern not only in people with pharmacologically intractable epilepsy (who have an estimated 35% lifetime risk), but also in adult patients in whom epilepsy is not fully controlled, in patients with predisposing mutations, and in children with Dravet syndrome. In the USA alone, there are about 3000 cases of SUDEP each year. Understanding the genetic, physiological, and environmental risk factors behind such increased mortality will lead to preventive strategies that can help to tackle these dismal figures.

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