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Clinical Trial NCT07413211 for MEF2C, DEE is recruiting. See the Trial Radar Card View and AI discovery tools for all the details. Or ask anything here. | ||
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Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness 22,068 Virtual
Clinical Trial NCT07413211 is an observational study for MEF2C, DEE that is recruiting. It started on February 26, 2025 with plans to enroll 22,068 participants. Led by Weill Medical College of Cornell University, it is expected to complete by April 30, 2037. The latest data from ClinicalTrials.gov was last updated on February 17, 2026.
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 t...Show More
Official Title
Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Conditions
MEF2CDEEOther Study IDs
- 24-10028107
NCT ID Number
Start Date (Actual)
2025-02-26
Last Update Posted
2026-02-17
Completion Date (Estimated)
2037-04-30
Enrollment (Estimated)
22,068
Study Type
Observational
Status
Recruiting
Keywords
MEF2C Haploinsufficiency Syndrome (MCHS)
Developmental and Epileptic Encephalopathy
Developmental and Epileptic Encephalopathy
Arms / Interventions
| Participant Group/Arm | Intervention/Treatment |
|---|---|
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. | Observation This intervention is observation only. |
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 | Observation This intervention is observation only. |
MCHS Online Registry * Has MCHS
* Any age at the time of study enrollment
* Commitment to fill out one on-line instrument | N/A |
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 | Observation This intervention is observation only. |
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 | Observation This intervention is observation only. |
DEE Online Registry Any DEE
* Any age at the time of study enrollment
* Commitment to fill out one on-line instrument | N/A |
Primary Outcome Measures
| Outcome Measure | Measure Description | Time Frame |
|---|---|---|
Change in Bayley Scales of Infant and Toddler Development (Fourth Edition) | Bayley-4 is a standardized assessment tool designed to evaluate children from age 1 month to 42 months. Bayley-4 assesses multiple areas of development, including cognitive, language, motor, social/emotional, and adaptive behavior. It is considered a gold standard by clinicians and researchers. In clinical studies of developmental disorders, Bayley-4 can be used in children older than 42 months. We track scores using the "age equivalent" metric, which runs from 0 month to 42 months in each subdomain. We will explicitly track five domains: cognition, expressive language, receptive language, gross motor, and fine motor. This will result in 5 separate metrics for age equivalency. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Observer-Reported Communication Ability (ORCA) | The ORCA is a battery of 84 questions to assess communication ability in children with neurodevelopmental disorders. Seventy items ask about observable behaviors within 22 concepts that cover expressive, receptive and pragmatic areas of communication. Fourteen additional items capture information about the individual's unique ways of communicating, including the modalities the individual uses, their current vocabulary, and aspects of language complexity (e.g. how many words/symbols/gestures are used to communicate a single message). The ORCA measure currently produces a single score that is an estimate of an individual's overall level of communication ability. Higher ORCA T-scores reflect greater communication ability; the mastery of expressive, receptive, and pragmatic types of communication and higher vocabularies for verbal words and symbols on assistive devices. The ORCA T-score range is from 25.8 to 83.8. | 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) | PDMS-3 is a standardized assessment tool used to measure the motor skills of young children from birth through 5 years of age. As with the Bayley-4, in studies of developmental disorders, the PDMS-3 is regularly used in children older than 5. We will track the age equivalent values in the five subdomains (body control, body transport, object control, hand manipulation, and eye-hand co-ordination). We track the "age equivalent" scores which range from 0 to 71 months in each subdomain. This will result in 5 "age equivalent" scores for each participant -- one for each subdomain. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Pediatric Epilepsy Learning Healthcare System (PELHS) | Dr. Grinspan (PI) designed the PELHS questions to characterize children with epilepsy for clinical care and research. These questions will be supplemented by standardized historical questions to understand the timing of critical events, such as the age of the first seizure, key EEG findings, and therapeutic trials. PELHS includes categorical items. Examples of categorical items include epilepsy syndrome and epilepsy type. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in QI-Disability | QI-Disability is a quality-of-life instrument specifically designed for children with intellectual disabilities with a strong track record of use in developmental and epileptic encephalopathies like CDKL5 disorder. Some core domains include physical, psychological, social, functional well-being, and self-determination. Each item is rated on a 5-point Likert scale and item scores are scaled to range from 0 to 100 with higher scores indicating better quality of life. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Children's Sleep Habits Questionnaire (CSHQ) | CHSQ is a parent survey focusing on bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night awakenings, and parasomnias. The scores range from 33 (no sleep disturbances) to 99 (profound sleep disturbances). Scores of 41 or higher indicate clinically significant sleep disturbance. We will analyze this variable as a binary variable (\< 41 vs \>= 41). | 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) | The CARS-2 is a diagnostic tool used to assess the severity of the autism spectrum disorder in children as young as 2. It consists of 15 items, each of which is rated on a scale from 1-4 (i.e. total score ranges from 15 to 60). Scores from 15-29.5 reflect minimal-to-no symptoms of autism spectrum disorder, scores from 30-36.5 reflect mild-to-moderate symptoms of autism spectrum disorder, and scores from 37-60 reflect severe symptoms of autism spectrum disorder. We will analyze these data as an ordinal categorical variable (four levels). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Vineland Adaptive Behavior Scales (Third Edition) | The Vineland Scales are a standard assessment of development for all ages. We will focus on five domains. For the adaptive behavior score, we will use the standard score -- the range is from 20 (lowest) to 140 (highest). For gross motor and fine motor domains, we will track the age equivalent value (range from 0 months to 83 months). For receptive and expressive language, we will also track the age equivalent value (range from 0 months to 252 months). There will be a total of four age equivalent values per participant (one for each domain). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Communication Function Classification System (CFCS) | CFCS is a single-item, five-level scale to assess communication abilities, originally designed for people with cerebral palsy. It describes the ability of individuals to send and receive information with familiar and unfamiliar communication partners. A level 5 score represents least effective communication, while a level 1 score represents most effective communication. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Alberta Infant Motor Scale (AIMS) | The AIMS is a standardized assessment tool used to evaluate the motor development of infants from birth to 18 months of age, focusing on gross motor skills, consisting of 58 items. The lowest possible score is 0 and the highest possible score is 58. We will provide interpretation by estimating the age-equivalent based on the 50%ile age associated with each score based on the normative percentile curves provided with the AIMS assessment worksheets -- for example a score of 3 is roughly equivalent to 0 months and a score of 50 is roughly equivalent to 11 months. | 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) | The GMFM-88 is a standardized clinical tool to evaluate changes in gross motor function in children aged 5 months and up. The scores range from 0-100, with a higher score indicating higher gross motor function. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Gross Motor Function Classification System (GMFCS) | GMFCS is a single-item, five-level scale to assess motor function, originally designed for people with cerebral palsy. It focuses on the degree of support required to maneuver in the environment. Scores range from I (least impaired) to V (most impaired). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Manual Ability Classification System (MACS) | MACS is a single-item, five-level scale to describe manual (hand and arm) abilities, initially designed for people with cerebral palsy. It measures how well children can handle objects, focusing on speed, accuracy, and requirements for support. The scores range from I (least impaired) to V (most impaired). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in WHO Motor Milestones | The WHO Motor Development Milestones are part of a standardized framework developed through the WHO Multicenter Growth Reference Study. These milestones focus on six key gross motor skills: sitting without support, standing with assistance, hands-and-knees crawling, walking with assistance, standing alone, and walking alone. Rather than a numbered score, these motor milestones are given "windows of achievement" for the following ages:
Sitting without support: 3.8 to 9.2 months Standing with assistance: 4.8 to 11.4 months Hands-and-knees crawling: 5.2 to 13.5 months Walking with assistance: 5.9 to 13.7 months Standing alone: 6.9 to 16.9 months Walking alone: 8.2 to 17.6 months | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Seizure Diaries | The seizure diaries are caregiver-maintained records of a participant's seizure count and frequency. Each round of diary collection will provide a number of seizures per six weeks. We will track this quantitatively as "seizures per week". | 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) | PELHS-QOL-2 is a brief, validated, 2-question assessment of quality of life for children with epilepsy. It can be scored from 0 (no impact of seizures or medication side effects on usual routines) to 8 (daily impact of seizures and side effects on usual routines). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Pediatric Sleep Questionnaire (PSQ) | The PSQ evaluates sleep-related breathing disorders, snoring, and daytime sleepiness in children. The PSQ has a score range from 0 to 1, with a higher score indicating a higher likelihood for sleep-related breathing disorders. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Aberrant Behavior Checklist (ABC) | The ABC is a validated scale to measure psychiatric symptoms and behavioral disturbance in children with intellectual disabilities. The lowest possible score of 0 indicates no aberrant behaviors. The highest possible score is 174. Higher scores indicate a higher degree of aberrant behavior. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Seizure Diaries | The seizure diaries are caregiver-maintained records of a participant's seizure count and frequency. Each round of diary collection will provide a number of seizures per six weeks. We will track the percentage of participants who have 50% reduction in seizure frequency at each visit compared to the prior visit. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Mullen Scales of Early Learning | Information about cognitive functioning is generated in four distinct areas (visual reception, fine motor, receptive language, and expressive language scales). There also is a measure of gross motor skills.The Mullen Scales provides a composite score. The lowest possible raw score in each subsection is a 5, for a lowest possible overall score of 25. The highest possible composite score is 218. | 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 | The DAYC-2 is a popular test used to identify children birth through 5-11 with possible delays in the following domains: cognition, communication, social-emotional development, physical development, and adaptive behavior. The domains can be assessed independently, so examiners may test only the domains that interest them or test all five domains when a measure of general development is desired. The lowest possible raw score is 0, while the highest possible raw score is 253. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Children's Sleep Habits Questionnaire (CSHQ) | CHSQ is a parent survey focusing on bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night awakenings, and parasomnias. The scores range from 33 (no sleep disturbances) to 99 (profound sleep disturbances). Scores of 41 or higher indicate clinically significant sleep disturbance. We will analyze this variable as a continuous variable (33 to 99). | 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) | The CARS-2 is a diagnostic tool used to assess the severity of the autism spectrum disorder in children as young as 2. It consists of 15 items, each of which is rated on a scale from 1-4 (i.e. total score ranges from 15 to 60). Scores from 15-29.5 reflect minimal-to-no symptoms of autism spectrum disorder, scores from 30-36.5 reflect mild-to-moderate symptoms of autism spectrum disorder, and scores from 37-60 reflect severe symptoms of autism spectrum disorder. We will analyze these data as a continuous variable (score value). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Pediatric Epilepsy Learning Healthcare System (PELHS) | Dr. Grinspan (PI) designed the PELHS questions to characterize children with epilepsy for clinical care and research. These questions will be supplemented by standardized historical questions to understand the timing of critical events, such as the age of the first seizure, key EEG findings, and therapeutic trials. PELHS includes ordinal items. Examples of ordinal items include seizure frequency (range from "none in the past two years" to "too many to count") and age of epilepsy onset. There is no overall score. | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Change in Aberrant Behavior Checklist (ABC) | The ABC is a validated scale to measure psychiatric symptoms and behavioral disturbance in children with intellectual disabilities. We will track each of five subdomains -- irritability (score range 0 - 45), lethargy (0 - 48), stereotypy (0 - 21), hyperactivity (0 - 48), inappropriate speech (0 -12). | at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years |
Participation Assistant
Eligibility Criteria
Eligible Ages
Child, Adult, Older Adult
Eligible Sexes
All
- 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
- 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
Weill Medical College of Cornell UniversityRare Bird FoundationStudy Central Contact
Contact: Zachary Grinspan, MD MS, (212) 746-3278, [email protected]
Contact: Natalie Wayland, BS, 646-962-3023, [email protected]
1 Study Locations in 1 Countries
New York
Weill Cornell Medicine, New York, New York, 10021, United States
Natalie Wayland, BS, Contact, 646-962-3023, [email protected]
Millie Stone, BA, Contact, 646-962-4664, [email protected]
Zachary Grinspan, MD MS, Principal Investigator
Recruiting