A seizure is a sudden change in the pattern of activity inside a person's brain. Seizures can lead to temporary changes in behavior and reduced ability to connect with the outside world. Seizures can come unexpectedly at any age. Newborn babies are at risk to have seizures. Known causes for a baby’s seizures include temporary lack of blood or oxygen getting to the brain during birth, infections, bleeding, and some biochemical disorders that can be diagnosed by blood or brain fluid (CSF) tests done in the hospital. In about 5-10% of babies with seizures, the seizures are the first sign of specific genetic changes that cause epilepsy. The genetic epilepsy that begins early in life includes very mild forms that disappear with age, and more severe forms that require ongoing medical care and support.
Some evidence suggests that babies with genetic epilepsy may benefit from specialized treatments that are already available. Newer treatments are being developed that hold promise but remain untested. However, doctors sometimes are unable to obtain hospital and/or insurance payment for genetic testing until much later. This can lead to delay in diagnosis. ERGENT is designed to test whether doctors can find babies with high risk of genetic epilepsy very soon (within days of seizure onset). If successful, ERGENT could help make early testing more available in the future. If more babies are diagnosed early, it may be easier to test new treatments and maximize their potential benefits.
If you baby is enrolled, your doctor will order an Epilepsy Gene Panel from Invitae at no charge to you, your hospital, or your insurance. Your doctor will arrange for enrolled babies and their parents to submit small samples of blood (or, for parents, saliva). Invitae will test for changes in over 180 different genes that are known causes of epilepsy. Within 10-21 (average 14) calendar days, Invitae will return a full report to your doctor.
For enrollment, ERGENT requires that you sign a release form. This will allow ERGENT researchers to access your baby's hospital records. We will review information about your baby’s condition and treatment, in order to learn how to improve future diagnosis and treatment of seizures in babies. All the information we save will be held securely. Anything identifying your family specifically (such as name, location, contact info) will not be included in what we save. Your family’s identity will never be revealed to others unless you request us to.
Three foundations formed by parents of children affected by early onset genetic epilepsy are collaborating to provide the money for this study. The funders want to shorten the time families often wait before obtaining a specific diagnosis, and encourage future development of new treatments. Invitae is providing testing and results reporting at a reduced cost as a collaboration with the research team and family groups.
Applications for Study Now Available
The online application is brief (2-5 minutes). An acceptance decision is returned quickly, typically within 1-2 hours, always within 8-16 hours. See inclusion criteria.
ERGENT has been reviewed and approved by the interdisciplinary human subjects research committee (IRB) at Baylor College of Medicine.