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Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Who can join
All ages · All sexes
Full eligibility criteria
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 support video teleconferencing * Commitment to fill out all survey instruments ARM 3 (Registry) * MEF2C * Any age at the time of study enrollment * Commitment to fill out one on-line instrument ARM 4 (In person cohort) * Any DEE * Any age at the time of study enrollment * Willingness to travel to New York City four times over two years ARM 5 (Virtual cohort) * Any DEE * Any age at the time of study enrollment * Sufficient internet connectivity to support video teleconferencing * Commitment to fill out all survey instruments ARM 6 (Registry) * Any DEE * Any age at the time of study enrollment * Commitment to fill out one on-line instrument Exclusion Criteria * Presence of a significant non-DEE-related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study * History of prematurity (defined as gestational age \<35 weeks), interventricular hemorrhage, structural brain deficit, or congenital heart disease * Presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of DEE
About the study
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.
What is being tested
- Observation (other)
Sponsor: Weill Medical College of Cornell University · Participants: 22,068 · Started: Feb 26, 2025
Contact the study team
- Zachary Grinspan, MD MS · Phone: (212) 746-3278
- Natalie Wayland, BS · Phone: 646-962-3023
Official record on ClinicalTrials.gov — NCT07413211
Locations in the U.S.
| New York | Weill Cornell Medicine, New York |
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.