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

NCT07413211 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 22068

Last updated 2026-02-17

No results posted yet for this study

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

OTHER

Observation

This intervention is observation only.

Sponsors & Collaborators

  • Rare Bird Foundation

    collaborator UNKNOWN

  • Weill Medical College of Cornell University

    lead OTHER

Principal Investigators

  • Zachary Grinspan, MD MS · Weill Medical College of Cornell University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-02-26
Primary Completion
2037-04-30
Completion
2037-04-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07413211 on ClinicalTrials.gov