Actively Recruiting
Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Led by Weill Medical College of Cornell University · Updated on 2026-02-17
22068
Participants Needed
1
Research Sites
635 weeks
Total Duration
On this page
Sponsors
W
Weill Medical College of Cornell University
Lead Sponsor
R
Rare Bird Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Molecular diagnosis of a genetic disorder associated with DEE confirmed by study investigators
- Presence of a neurological condition such as epilepsy or developmental delay confirmed by study investigators
- English speaking for Arms 1, 2, 4, and 5; any language for registry arms
- For Arm 1: MEF2C diagnosis, age 0 to 15 at enrollment, willingness to travel to New York City four times over two years
- For Arm 2: MEF2C diagnosis, any age at enrollment, sufficient internet for video visits, commitment to complete all surveys
- For Arm 3: MEF2C diagnosis, any age at enrollment, commitment to complete one online survey
- For Arm 4: Any DEE diagnosis, any age at enrollment, willingness to travel to New York City every six months for 10 years
- For Arm 5: Any DEE diagnosis, any age at enrollment, sufficient internet for video visits, commitment to complete all surveys
- For Arm 6: Any DEE diagnosis, any age at enrollment, commitment to complete one online survey
You will not qualify if you...
- Significant central nervous system impairment or behavioral disturbance unrelated to DEE that would affect study results
- History of prematurity (gestational age less than 35 weeks), interventricular hemorrhage, structural brain defects, or congenital heart disease
- Presence of clinical conditions that could confound the typical presentation of DEE as determined by investigators
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Weill Cornell Medicine
New York, New York, United States, 10021
Actively Recruiting
Research Team
Z
Zachary Grinspan, MD MS
CONTACT
N
Natalie Wayland, BS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
6
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