MEF2CNCT07413211
Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
An observational study of MEF2C and DEE, run by Weill Medical College of Cornell University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- What is being tested?
- Observation
- How many people
- 22,068 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Feb 2025to 30 Apr 2037
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The target population is any individual with a neurological phenotype (developmental delay or seizures) and a known genetic etiology.
Who may be able to join
- 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.
Show all 29Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Weill Cornell Medicine
New York, New York, 10021
Natalie Wayland, BS, 646-962-3023, naw4006@med.cornell.edu
Millie Stone, BA, 646-962-4664, aks4017@med.cornell.edu
About this study
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.
- Being tested
- Observation
- Keywords
- MEF2C Haploinsufficiency Syndrome (MCHS), Developmental and Epileptic Encephalopathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ObservationOther
This intervention is observation only.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Observation | |
| 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 Receives: Other: Observation | |
| 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 Receives: Other: Observation | |
| 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 Receives: Other: Observation | |
| DEE Online Registry | Any DEE * Any age at the time of study enrollment * Commitment to fill out one on-line instrument |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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).
Measured: 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).
Measured: 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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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).
Measured: 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).
Measured: 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
Measured: 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".
Measured: 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).
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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).
Measured: 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).
Measured: 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.
Measured: 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).
Measured: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2026
- Study start26 Feb 2025
- Primary completion30 Apr 2037 (estimated)
- Study completion30 Apr 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MEF2CStudies of the same condition, open and under way.
- More trials run by Weill Medical College of Cornell UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 22,068 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Weill Medical College of Cornell University
- Sponsor type
- University, hospital or other
- Collaborators
- Rare Bird Foundation
- Responsible party
- Sponsor
- Investigators
- Zachary Grinspan, MD MS, Principal investigator, Weill Medical College of Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07413211
- Sponsor's protocol ID
- 24-10028107
- Status last verified
- Feb 2026
- First submitted
- 9 Feb 2026
- Last updated
- 17 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
- ClinicalTrials.gov ID
- NCT07413211
- Acronym / sponsor ID
- 24-10028107
- Keywords
- MEF2C Haploinsufficiency Syndrome (MCHS), Developmental and Epileptic Encephalopathy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 22,068 participants (estimated)
- Lead sponsor
- Weill Medical College of Cornell UniversityUniversity, hospital or other
- Collaborators
- Rare Bird Foundation
- Study start
- 26 Feb 2025 (actual)
- Primary completion
- 30 Apr 2037 (estimated)
- Study completion
- 30 Apr 2037 (estimated)
- First posted
- 17 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Onsite Cohort with MCHS | – | Other: ObservationThis 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 | – | Other: Observation* 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 | – | Other: Observation* 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 | – | Other: ObservationAny 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The target population is any individual with a neurological phenotype (developmental delay or seizures) and a known genetic etiology.
Key inclusion criteria (29 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ObservationThis intervention is observation only. | Other | Onsite Cohort with MCHS, Onsite Cohort with any DEE, Virtual Cohort with Any DEE, Virtual Cohort with MCHS |
Primary outcome
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
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.
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
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.
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
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.
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
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.
Change in QI-Disability
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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.
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
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).
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
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).
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
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).
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
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.
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
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.
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
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.
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
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).
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
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).
Change in WHO Motor Milestones
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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
Change in Seizure Diaries
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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".
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
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).
Change in Pediatric Sleep Questionnaire (PSQ)
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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.
Change in Aberrant Behavior Checklist (ABC)
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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.
Change in Seizure Diaries
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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.
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
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.
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
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.
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
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).
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
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).
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
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.
Change in Aberrant Behavior Checklist (ABC)
Time frame: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Zachary Grinspan, MD MS principal investigator
Weill Medical College of Cornell University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of MEF2C and DEE, run by Weill Medical College of Cornell University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 29 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Zachary Grinspan, MD MS ((212) 746-3278, zag9005@med.cornell.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). The study lists 25 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Feb 2026.