With hopes of understanding unexplained deaths among young people with epilepsy, the National Institute of Neurological Disorders and Stroke (NINDS) has teamed up with the National Heart, Lung, and Blood Institute (NHLBI), and the US Centers for Disease Control and Prevention (CDC) to develop a national registry to accumulate incidence data. The agencies are also hoping that it will be feasible to collect specimens from the autopsies that could be used for research to gain a better understanding of why young people die for no apparent reason.
The CDC already has a registry to collect data on children under a year old to help in the understanding of sudden unexplained deaths among infants. This new registry will expand the CDC's efforts and study deaths of people from birth through the age of 24. The NINDS and NHLBI want to collect data in these young people to see how often heart disease and epilepsy were related to their deaths.
The “Sudden Death in the Young” registry was initiated by Jonathan Kaltman, MD, chief of NHLBI's Heart Development and Structural Diseases Branch within the Division of Cardiovascular Sciences, who said that “this is a critical first step toward figuring out how to best prevent these tragedies.”
NINDS staff heard about the initiative and knew that they had to be involved, and Vicky Whittemore, PhD, program director for epilepsy research, joined the discussions. Sudden unexpected death in epilepsy (SUDEP) cases are usually not systematically reported, and death certificates do not generally have SUDEP as the cause of death. Therefore, the cases go unreported and the true incidence is unknown, she said.
This new registry will put in place agreed-upon standards and definitions for SUDEP so that the information can be used to ascertain incidence, causes, and risk factors. Having this information could lead to the development of ways to prevent these deaths, Dr. Whittemore said.
Epilepsy increases the risk of death in individuals whose seizures are not controlled, including children, adolescents, and young adults. There are estimates that one in 150 people with epilepsy will die of SUDEP. Dr. Whittemore said that a thorough review of such deaths could lead to a true incidence of SUDEP.
The same is true for cardiac deaths among young people. There are many heart conditions linked to these deaths, including hypertrophic cardiomyopathy, disorders of the coronary arteries, and long QT syndrome.
Dr. Whittemore said that the agencies will secure funding for the registry and put out a request for applications that would allow states to apply to the CDC to become part of the registry. Currently, the CDC collects data on nine states, but they hope to fund data collection from 15 states. They will work with child death review teams in each of the states to collect and review the information from medical records and autopsies, and issue a comprehensive report on their review. When possible, they will attempt to obtain consent from the family to obtain a blood sample that will be used for future research.
Once collected, the data will be entered into a centralized registry at a coordinating center at the Michigan Public Health Institute, which was awarded the contract to be the centralized data-coordinating center. (This is where the data are managed for the Sudden Unexpected Infant Death Case Registry. The Michigan institute already has an infrastructure in place and has built relationships with state child death review teams.)
Investigators at the NHLBI will analyze the data on sudden cardiac death and NINDS researchers will focus on SUDEP, as well as look for any overlap between the cases of sudden cardiac death and SUDEP.
The teams are working full-time on implementing the registry. By spring 2014, states will have an opportunity to apply for funding. Once enough cases are investigated and the data entered into the registry, there will be an RFA posted to scientists that will allow access to the data and the biospecimens for research.
“It is devastating to lose a child and it is particularly hard when the family does not know what caused the death,” said Dr. Whittemore. She said that the study coordinators will have to educate families on the importance of donating specimens for further study.
They will also have to educate medical examiners and pathologists. “Epilepsy or SUDEP is generally not written on the death certificate,” she added. “The number of SUDEP cases is low because information is not reflected on the death certificate. SUDEP is not commonly used in the medical examiner world,” she said.
Kristin Burns, MD, the project officer at the NHLBI, agreed. The registry could set such standards for medical examiners to follow, she said. “Our hope is to obtain enough data to determine the incidence of sudden cardiac death and SUDEP in the young — and to be able to identify risk factors.”
The federal agencies are now in the planning stages of the registry. They are putting together expert panels so that protocols can be written for medical examiners. Then, once states apply for funding, the staff will need training to get the registry up and running.
“It's been a great collaboration,” said Dr. Whittemore.