Registries for SUDEP research
[Part 1: Facts; Donner EJ & Devinsky O]
All SUDEP research aims to save lives. The focus may be on unraveling the mystery of what causes death in SUDEP or learning how to reduce the risk of SUDEP among people living with epilepsy. Registries are powerful tools that allow us to learn from each devastating SUDEP loss. A clinical registry is a systematic collection of clearly defined health and demographic data for people with a certain health condition. Data can be collected from several sources and collated in one large database. Registries may include information on an individual’s disease symptoms and signs and also may collect biological samples, such as blood or tissue, for scientific study.
There are several ongoing initiatives to collect information about SUDEP deaths into registries. We will discuss two initiatives here.
North American SUDEP Registry (NASR)
In 2012, the North American SUDEP Registry (NASR) was formed by a group of epileptologists, epidemiologists, medical examiners, scientists and affected family members from the United States and Canada, in collaboration with lay and advocacy organizations. The mission of NASR is to facilitate research into the underlying mechanisms and risk factors for SUDEP and to identify prevention strategies. To this end, NASR has four primary aims:
Develop a repository of biospecimens and clinical data on epilepsy-related deaths
Facilitate surveillance of epilepsy-related mortality
Support collaborative research
Provide biological specimens and clinical data from epilepsy-related deaths to the broader scientific community
The data in NASR is collected from families that contact the registry. Once a family contacts NASR and consent is obtained a short telephone interview is conducted to gather information relevant to the family member's epilepsy and death. Then, further information can be obtained from the treating health care team. As of the fall of 2014, NASR has successfully initiated collaborative efforts to collect clinical, DNA and/or brain specimens on 69 SUDEP cases and 76 controls from high-risk populations with epilepsy (Dravet and Dup15q syndromes). Case-control studies for SUDEP subpopulations are underway as well and early results have been submitted for publication or presentation. To enhance surveillance of epilepsy-related deaths, NASR has a full-time employee at the San Diego Medical Examiner’s office for surveillance and collection of biospecimens. NASR also maintains active collaborations with more than six other state and county Medical Examiners offices. NASR was involved in legislation passed in New Jersey and Illinois for surveillance and for biospecimen collection in NJ in SUDEP. Future plans include expanding surveillance work to other jurisdictions as well as more systematic collaborations with epilepsy centers.
Canadian Pediatric SUDEP Registry (CPSR)
SUDEP is estimated to result in 1 death per 1000 people with epilepsy each year. Rates are reported to be lower in children, yet we don’t know why. The possible explanations for the reduced risk of SUDEP in children with epilepsy are many. Is it the shorter duration of epilepsy in children, simply by virtue of their younger age? Could it be related to the differing causes of epilepsy in children? Does the fact that children live in supervised environments contribute to the reduced risk? Furthermore, if we determine the factors that reduce SUDEP risk in children, can we apply those to adults with epilepsy and reduce their risk as well?
To approach these questions, the CPSR was developed through collaboration with the Canadian Pediatric Epilepsy Network and the Canadian Pediatric Surveillance Program. Prior to implementation of this registry, a survey was sent to pediatricians across Canada to both educate them to recognize SUDEP and gather information about SUDEP among Canadian children. 2750 surveys were mailed and a 34% response rate was achieved. Of the 866 responses, 78% (674) pediatricians reported that they have cared for children with epilepsy in the preceding 24 months. Among these pediatricians, only 56 % (380) had prior knowledge that children with epilepsy are at an increased risk of sudden unexplained death compared to children without epilepsy. Only 33% (225) of pediatricians caring for children with epilepsy were aware of the term SUDEP. Fourteen pediatricians reported knowledge of a case of sudden unexpected death in a child with epilepsy. Of the 11 cases for which details of the death investigation process were reported, 5 children (45%) did not undergo autopsy, suggesting inadequate investigation of deaths in children with epilepsy.
Data from this survey informed the development of the CPSR. Currently, each month pediatricians across Canada receive a request to report SUDEP cases in children under the age of 18. Once consent is obtained, standardized data is collected; the CPSR and NASR collect complementary data to facilitate data pooling.
By using clinical registries to compile data and biological specimens from SUDEP cases across North America, we aim to identify robust biomarkers and clinical risk factors that identify who is most at risk. It is critical that any registry initiative be combined with SUDEP awareness campaigns targeting both health care providers and people living with epilepsy to ensure that no death goes unrecognized.
Elizabeth J Donner, Director, Comprehensive Epilepsy Program, The Hospital for Sick Children, Toronto, Canada
Orrin Devinsky, Director, Comprehensive Epilepsy Center, NYU Langone Medical Center, New York, USA
Reviewed Apr 2018; Original Dec 2014
For the NASR, as of Spring 2018, there are currently 238 enrolled SUDEPs with 86 living controls with epilepsy, and 54 deceased non-SUDEP controls.
How to cite:
Donner EJ & Devinsky O. Registries for SUDEP research. In: Panelli R, Hanna J, Jeffs T, Brocett P, editors. Continuing the global conversation [online]. SUDEP Action & SUDEP Aware; 2018 [retrieved day/month/year]. Available from: www.sudepglobalconversation.com.