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Идёт набор NCT07413211

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

— Наблюдательное MEF2C DEE

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
В протоколе указаны: Observation.
Кому может быть актуально
Состояния в реестре: MEF2C, DEE. Базовые параметры: Без ограничений · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
США
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

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.

Вмешательства

  • Другое Observation
    This intervention is observation only.

Первичные конечные точки

  • Change in Bayley Scales of Infant and Toddler Development (Fourth Edition) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Observer-Reported Communication Ability (ORCA) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Peabody Developmental Motor Scales 3 (PDMS-3) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Pediatric Epilepsy Learning Healthcare System (PELHS) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in QI-Disability [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Children's Sleep Habits Questionnaire (CSHQ) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Childhood Autism Rating Scale-2 (CARS-2) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Vineland Adaptive Behavior Scales (Third Edition) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Communication Function Classification System (CFCS) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]
  • Change in Alberta Infant Motor Scale (AIMS) [Срок оценки: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years]

Критерии участия

Критерии включения

  • 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

Критерии исключения

  • 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

США · 1 центр
  • Weill Cornell Medicine — New York

Идентификаторы

NCT: NCT07413211 · 24-10028107

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗