Natural history tracking of MEF2C-related and other developmental and epileptic encephalopathies
Official title: Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Run by Weill Medical College of Cornell University · NCT07413211 · Data updated 2026-11-12
This project will collect medical, seizure, and developmental information over time from children and adults with MEF2C-related DEE and from people with other genetic DEEs to help prepare for future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 22068 (estimated) |
| Sponsor | Weill Medical College of Cornell University Academic / other |
| Locations | 1 site (New York, New York) |
| Status | Recruiting |
| Started | February 26, 2025 |
| Main results expected | April 30, 2037 |
| Study ends | April 30, 2037 |
| Registry record updated | February 17, 2026 |
| Trial ID | NCT07413211 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are people of any age with a confirmed molecular diagnosis of a genetic DEE (MEF2C for the MEF2C-specific arms) and a neurologic phenotype who can meet the travel, language, or internet requirements of the chosen arm.
✕Probably not a fit
People without a confirmed genetic diagnosis of DEE, those without a relevant neurological phenotype, or those unable to meet the travel or technology requirements for in-person or virtual arms are unlikely to benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a non-interventional, longitudinal natural history effort run by Weill Cornell Medicine that enrolls participants with MEF2C Haploinsufficiency Syndrome (MCHS) and other genetic developmental and epileptic encephalopathies (DEE) into six parallel arms. Arms 1–3 focus on MEF2C (in-person pediatric cohort, virtual cohort, and an online registry) while Arms 4–6 mirror that structure but are open to all genetic DEEs. In-person arms require visits to Weill Cornell Medicine in New York City on scheduled timelines (for example, four visits over two years for the MEF2C pediatric in-person arm and semiannual visits for up to 10 years in the broader DEE in-person arm), virtual arms use telemedicine visits and scheduled surveys, and registry arms collect online survey data only. Eligibility requires a molecular diagnosis of a genetic DEE and a neurological phenotype such as epilepsy or developmental delay; language and connectivity requirements differ by arm.
Why it matters
Potential benefit: If successful, the data could improve outcome measures and trial design and speed development of targeted therapies for MEF2C and other genetic DEEs.
How similar studies have gone: Natural history registries for other DEEs have previously informed trial design and endpoint selection, but longitudinal, MEF2C-specific data are limited so this effort fills an important data gap.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Weill Cornell Medicine
New York, New York, United States Recruiting
Study contacts
- Principal investigator: Zachary Grinspan, MD MS — Weill Medical College of Cornell University
- Study coordinator: Zachary Grinspan, MD MS
- Email: zag9005@med.cornell.edu
- Phone: (212) 746-3278
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Multi-biomarkers in DEE: a big look at genetic epilepsies
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.