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Идёт набор NCT07372833

CAMK2-related Synapthopathies Natural History Study

— Наблюдательное CAMK2 Calcium/Calmodulin-dependent Protein Kinase 2

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: No intervention.
Кому может быть актуально
Состояния в реестре: CAMK2, Calcium/Calmodulin-dependent Protein Kinase 2. 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
Нидерланды
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Natural History Data of International Subjects With an ULTRA-Rare Neuro Developmental Disorder as Part of the ENCORE Expert Clinics, Specifically CAMK2A, CAMK2B, CAMK2D, and CAMK2G.

Обзор

The key endpoint for this prospective cohort study is: Mapping of the disease course of all known patients (both children and adults, international) with a CAMK2 mutation, for which ENCORE has founded an expert clinic, and therefore has a substantial and active neuroscientific research arm combined with tertiary academic clinical care delivery for those living in the Netherlands. Such robust clinical maps can subsequently be used for genotype-phenotype correlations and, identify clinically relevant outcome measures for prognostication, improvement of care delivery \& future clinical trials. Additionally, it will most likely generate new research questions for basic scientists who are trying to unravel the specific mechanisms of disease pathophysiology.

Вмешательства

  • Другое No intervention
    This is an observational study without interventions.

Первичные конечные точки

  • Age of milestone achievement [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years.]
  • Presence of seizures [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Adaptive Behavior Assessment System 3 (ABAS-3) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Social Responsiveness Scale, Second Edition (SRS-2) total score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Aberrant Behavior Checklist (ABC) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
Вторичные конечные точки (7)
  • Repetitive Behaviors Questionnaire (RBQ) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Child Behavior Checklist (CBCL) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Children's Behavior Questionnaire (CBQ) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Mood, Interests and Pleasure Questionnaire Long form (MIPQ-L) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Short Sensory Profile (SSP) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Sleep questionnaire for children with neurological andother complex illnesses (SNAKE) score [Срок оценки: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.]
  • Presence of loss of skills [Срок оценки: Assessment with this questionnaire begins at ages 15-17 and is repeated every five years thereafter.]

Критерии участия

Критерии включения

  • Subject with a (likely) pathogenic variation in one of the CAMK2 genes
  • Consent for anonymous registration in an (inter)national database

Критерии исключения

\- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.

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

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Нидерланды · 1 центр
  • Erasmus MC — Rotterdam

Идентификаторы

NCT: NCT07372833 · MEC-2021-0099

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗