What this study is
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.
What's being tested
- Observation
Intervention · OTHER
This intervention is observation only.
Study details
- Sponsor
- Weill Medical College of Cornell University
- Conditions
- MEF2C · DEE
- Enrolling
- 22,068 people
- Starts
- 2025-02-26
- Est. completion
- 2037-04-30
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedARM 1
You may qualify if
- 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.
- MEF2C
- Age 0 to 15 at the time of study enrollment.
- Willingness to travel to New York City four times over two years
You can't join if
- 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
ARM 2
You may qualify if
- 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.
- MEF2C
- Any age at the time of study enrollment
- Sufficient internet connectivity to support video teleconferencing
- Commitment to fill out all survey instruments
You can't join if
- 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
ARM 3
You may qualify if
- 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.
- MEF2C
- Any age at the time of study enrollment
- Commitment to fill out one on-line instrument
You can't join if
- 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
ARM 4
You may qualify if
- 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.
- Any DEE
- Any age at the time of study enrollment
- Willingness to travel to New York City four times over two years
You can't join if
- 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
ARM 5
You may qualify if
- 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.
- Any DEE
- Any age at the time of study enrollment
- Sufficient internet connectivity to support video teleconferencing
- Commitment to fill out all survey instruments
You can't join if
- 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
ARM 6
You may qualify if
- 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.
- Any DEE
- Any age at the time of study enrollment
- Commitment to fill out one on-line instrument
You can't join if
- 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
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
Loading treatment details…
Study locations (1)
1 openWeill Cornell Medicine
New York, New York, United States
- Natalie Wayland, BS · Contact646-962-3023naw4006@med.cornell.edu
- Millie Stone, BA · Contact646-962-4664aks4017@med.cornell.edu
- Zachary Grinspan, MD MS · Principal investigator
Recruiting
Study team
Sponsor
Weill Medical College of Cornell University
Study ID 24-10028107
Principal investigator
Zachary Grinspan, MD MS
Weill Medical College of Cornell University
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.