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

Clinical Trial Details

This is a 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 Eligibility:

Inclusion Criteria

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.
   • 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 online 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 online instrument

Exclusion Criteria

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 greater than 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

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Study contact by location

Upper East Side - Manhattan

Contact(s)

Natalie Wayland
646-962-3023
naw4006@med.cornell.edu

Primary Investigator(s)

Zachary Grinspan

Protocol ID(s)

Weill Cornell Medicine IRB #:

2410028107

Status

Open to Enrollment

Age Group

Pediatric

Disease

Developmental and Epileptic Encephalopathy