Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Weill Medical College of Cornell University
Summary
Phase 0 non-interventional longitudinal study of children and adults with Developmental and Epileptic Encephalopathy (DEE) due to a genetic cause. There are six arms of the study. Arms 1, 2, and 3 are devoted to one example DEE, MEF2C Haploinsufficiency Syndrome (MCHS). Arms 4, 5, and 6 are open to all DEE. Arm 1 (in-person) will enroll children 0 to 15, who will make in-person visits to Weill Cornell Medicine four times over two years. Arm 2 (virtual) will enroll people of all ages and older who will make virtual visits over Weill Cornell Zoom to Weill Cornell Medicine over two years (2 if 16 and older; 4 if 0 to 15). Arm 3 (registry) will enroll people of all ages in an online-only survey. Arms 4 - 6 mirror this structure but they are open to all children with DEE. Arm 4 (in-person) will enroll children of any age, who will make in-person visits every 6 months for 10 years. Arm 5 (virtual) will enroll children of any age for virtual visits, twice a year of 0 to 15, once a year if 16 or older. Arm 6 (registry) will enroll people of all ages in an online only survey.
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria * Molecular diagnosis of a genetic disorder associated with DEE, as confirmed by the study investigators * A neurological phenotype such as epilepsy or developmental delay as confirmed by the study investigators. * English Speaking (Arms 1, 2, 4, 5). The registries may be completed by people who speak any language. ARM 1 (In person cohort) * MEF2C * Age 0 to 15 at the time of study enrollment. * Willingness to travel to New York City four times over two years ARM 2 (Virtual cohort) * MEF2C * Any age at the time of study enrollment * Sufficient internet connectivity to s…
Interventions
- OtherObservation
This intervention is observation only.
Location
- Weill Cornell MedicineNew York, New York