Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness

Part of paid clinical trials in New York, New York.

Sponsor
Weill Medical College of Cornell University
Study ID
NCT07413211
Status
Recruiting
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Conditions

  • DEE
  • MEF2C

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Observation — OTHER
    This intervention is observation only.

Study Details

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.

Key Dates

Start date
Feb 26, 2025
Status verified
Feb 2026
Primary completion
Apr 30, 2037
Completion
Apr 30, 2037

Study Design

Enrollment
22,068 participants (estimated)

Arms

  • Arm: 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.
  • Arm: 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
  • Arm: MCHS Online Registry
    * Has MCHS * Any age at the time of study enrollment * Commitment to fill out one on-line instrument
  • Arm: 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
  • Arm: 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
  • Arm: DEE Online Registry
    Any DEE * Any age at the time of study enrollment * Commitment to fill out one on-line instrument

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 ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Weill Cornell MedicineNew YorkNew York10021
Natalie Wayland, BS
[email protected]
646-962-3023
Millie Stone, BA
[email protected]
646-962-4664
Zachary Grinspan, MD MS (PRINCIPAL_INVESTIGATOR)

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