Recruiting

Developmental Encephalopathy

Sponsor:

Weill Medical College of Cornell University

Code:

NCT07413211

Conditions

MEF2C

DEE

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Observation

Study Details

Brief 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

Study ID

NCT07413211

Start date

Feb 26, 2025

Status verified date

Feb, 2026

Completion date

Apr 30, 2037

Anticipated

Primary completion date

Apr 30, 2037

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

22068 participants

Anticipated

Interventions and Outcome Measures

Arms

Onsite Cohort with MCHS

This is an in-person cohort of participants with MCHS under age 16 who will meet with investigators at the site location every 6 months for 2 years.

Virtual Cohort with MCHS

  • Has MCHS
  • Any age at the time of study enrollment
  • Sufficient internet connectivity to support video teleconferencing
  • Commitment to fill out all survey instruments

MCHS Online Registry

  • Has MCHS
  • Any age at the time of study enrollment
  • Commitment to fill out one on-line instrument

Onsite Cohort with any DEE

  • Any DEE
  • Any age at the time of study enrollment
  • Willingness to travel to New York City four times over two years

Virtual Cohort with Any DEE

Any DEE

  • Any age at the time of study enrollment
  • Sufficient internet connectivity to support video teleconferencing
  • Commitment to fill out all survey instruments

DEE Online Registry

Any DEE

  • Any age at the time of study enrollment
  • Commitment to fill out one on-line instrument

Interventions

Observation

This intervention is observation only.

Primary outcome measure

  • Change in Bayley Scales of Infant and Toddler Development (Fourth Edition) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Observer-Reported Communication Ability (ORCA) [ Time Frame: 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) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Pediatric Epilepsy Learning Healthcare System (PELHS) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in QI-Disability [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Children's Sleep Habits Questionnaire (CSHQ) [ Time Frame: 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) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Vineland Adaptive Behavior Scales (Third Edition) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Communication Function Classification System (CFCS) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Alberta Infant Motor Scale (AIMS) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Gross Motor Function Measure-88 (GMFM-88) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Gross Motor Function Classification System (GMFCS) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Manual Ability Classification System (MACS) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in WHO Motor Milestones [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Seizure Diaries [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Pediatric Epilepsy Learning Healthcare System Quality of Life (PELHS-QOL-2) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Pediatric Sleep Questionnaire (PSQ) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Aberrant Behavior Checklist (ABC) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Seizure Diaries [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Mullen Scales of Early Learning [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in (DAYC-2) Developmental Assessment of Young Children, Second Edition [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Children's Sleep Habits Questionnaire (CSHQ) [ Time Frame: 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) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Pediatric Epilepsy Learning Healthcare System (PELHS) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]
  • Change in Aberrant Behavior Checklist (ABC) [ Time Frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years ]

Central Contacts and Locations

Central contacts

Zachary Grinspan, MD MS

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

Natalie Wayland, BS

646-962-3023naw4006@med.cornell.edu

Locations

Weill Cornell Medicine

Recruiting

New York, New York, United States, 10021

Contacts

Natalie Wayland, BS

646-962-3023naw4006@med.cornell.edu

Millie Stone, BA

646-962-4664aks4017@med.cornell.edu

Principal Investigator:

Zachary Grinspan, MD MS

More Information

Sponsor

Weill Medical College of Cornell University

Last update posted

Feb 17, 2026

Last verified

Feb, 2026

Keywords

  • MEF2C Haploinsufficiency Syndrome (MCHS)
  • Developmental and Epileptic Encephalopathy

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Weill Medical College of Cornell University on 2026-02-17.