NCT07413211Recruiting
Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Source: ClinicalTrials.gov · Last updated 17 Feb 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 22068 (estimated)
- First submitted
- 9 Feb 2026
- Start date
- 26 Feb 2025
- Primary completion date
- 30 Apr 2037
- Lead sponsor
- Weill Medical College of Cornell University
- Diseases
- Epilepsy
- NCT number
- NCT07413211
What you commit to
- Study type: Observational
- Planned participants: 22068
- From 26 Feb 2025 to the primary completion date, 30 Apr 2037
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- 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
Age
- History of prematurity (defined as gestational age \<35 weeks), interventricular hemorrhage, structural brain deficit, or congenital heart disease
Other
- Presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of DEE
Who the study is looking for
- 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
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Weill Cornell Medicine Coordinator of this site? Confirm its status | New York | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.