What is the LGS EGI Exome Project (LEEP)?
LGSF, in partnership with EGI, is piloting a project called LEEP; the LGS / EGI Exome Project, to fund the exomes of a limited number of patients in EGI. The goal is to test the feasibility of funding exomes for patients that cannot get the test covered by their insurance company and to advance gene discovery in LGS. If successful, more families may be able to get exome testing through EGI and more LGS genes may be found. That is our hope!
What is EGI?
EGI is an initiative created by CURE and NINDS to advance precision medicine in epilepsy. EGI has created a centralized database to hold the exome and genome sequence data of people with epilepsy. The data is analyzed every six months and if a cause is found, it is reported back to the treating physician. PARTICIPANTS may also CHOOSE TO SHARE THIER EGI DATA to advance cutting-edge epilepsy research.
LGSF + EGI Partnership
Who qualifies for the LGS EGI Exome Project (LEEP)?
The LGSF has partnered with doctors around the U.S. to select patients for this pilot study. Patients who are enrolled meet the following criteria:
Age of onset of seizures under 8 years of age
Slow spike and wave on EEG
Multiple seizure types, seizure uncontrolled
LGS is not due to trauma or infection
Have not had exome sequencing done before and can’t get the testing covered
Agree to a one-hour teleconference to learn about and consent to the study
Agree to donating blood to EGI and following the protocol to do so
Sequencing of trios (mom, dad and affected child) are preferred by not required
What is the process for enrolling in the LGS EGI Exome Project (LEEP)?
LEEP is now full and we are not currently enrolling at this time.