RecruitingNot Applicable

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

United States22,068 participantsStarted 2025-02-26

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in Bayley Scales of Infant and Toddler Development (Fourth Edition)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Observer-Reported Communication Ability (ORCA)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Peabody Developmental Motor Scales 3 (PDMS-3)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Pediatric Epilepsy Learning Healthcare System (PELHS)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in QI-Disability

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Children's Sleep Habits Questionnaire (CSHQ)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Childhood Autism Rating Scale-2 (CARS-2)

Trial details

NCT IDNCT07413211

SponsorWeill Medical College of Cornell University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2037-04-30

Contact for this trial

Zachary Grinspan, MD MS

(212) 746-3278 zag9005@med.cornell.edu

View on ClinicalTrials.gov More MEF2C trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Change in Bayley Scales of Infant and Toddler Development (Fourth Edition)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Observer-Reported Communication Ability (ORCA)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Peabody Developmental Motor Scales 3 (PDMS-3)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Pediatric Epilepsy Learning Healthcare System (PELHS)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in QI-Disability

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Children's Sleep Habits Questionnaire (CSHQ)

Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years

Change in Childhood Autism Rating Scale-2 (CARS-2)