NCT07413211

Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 22,068 (estimated)
• Sponsor: Weill Medical College of Cornell University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• MEF2C
• DEE

Interventions

Type	Name	Description
OTHER	Observation	This intervention is observation only.

Timeline

• Start date: 2025-02-26
• Primary completion: 2037-04-30
• Completion: 2037-04-30
• First posted: 2026-02-17
• Last updated: 2026-02-17

Locations

1 site across 1 country: United States