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

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

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.

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 on-line 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 on-line 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 <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