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
N/A
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
Researchers are conducting a Phase 0 observational study to understand the natural history of Developmental and Epileptic Encephalopathy (DEE) caused by genetic factors. The study involves children and adults with DEE, including a specific focus on MEF2C Haploinsufficiency Syndrome (MCHS). It aims to collect detailed data to support future clinical trials and better understand disease progression in these populations. The study includes six groups: three focus on MCHS and three on all DEE types. Some groups involve in-person visits, with children attending up to four visits over two years or every six months for up to ten years. Other groups participate virtually via video calls or complete online surveys. The frequency of visits varies by age and group, ranging from two to four visits over two years or annual virtual check-ins. Participants will undergo various developmental and behavioral assessments, including scales measuring communication, motor skills, sleep, seizure tracking, and adaptive behaviors at multiple timepoints over two years. Data collection includes questionnaires and observational measures, captured through in-person visits, virtual visits, or online surveys. The study tracks changes over time to inform future treatments and clinical trial readiness for people affected by DEE.
CONDITIONS
Brief 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 linked to Developmental and Epileptic Encephalopathy (DEE), confirmed by study investigators
- Presence of neurological symptoms such as epilepsy or developmental delay, confirmed by study investigators
- English speaking for in-person and virtual arms (Arms 1, 2, 4, 5); registries open to any language
- For Arm 1: diagnosis of MEF2C Haploinsufficiency Syndrome (MCHS), age 0 to 15 at enrollment, willingness to travel to New York City four times over two years
- For Arm 2: MCHS diagnosis, any age, sufficient internet for video calls, commitment to complete all surveys
- For Arm 3: MCHS diagnosis, any age, commitment to complete one online survey
- For Arm 4: any DEE diagnosis, any age, willingness to travel to New York City four times over two years
- For Arm 5: any DEE diagnosis, any age, sufficient internet for video calls, commitment to complete all surveys
- For Arm 6: any DEE diagnosis, any age, commitment to complete one online survey
You will not qualify if you...
- Significant non-DEE-related central nervous system impairment or behavioral issues that could affect study results
- History of prematurity (gestational age less than 35 weeks), interventricular hemorrhage, structural brain defects, or congenital heart disease
- Clinical comorbidities that may confuse the typical presentation of DEE, as judged by the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 screening and enrollment visit
Duration - 2 years
Participants are observed over time to track developmental and epileptic encephalopathy symptoms and changes.
Visits every 6 months for up to 2 years depending on cohort; some participants complete surveys online only
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
N
Natalie Wayland, BS
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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