Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)
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: MRI, EEG, Pupillometry.
- Кому может быть актуально
- Состояния в реестре: Ondine Syndrome (Congenital Central Hypoventilation Syndrome). Базовые параметры: 7 лет — 20 лет · 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
- Франция
- 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
Study of the Impact of Locus Coeruleus Dysfunction on Cognitive Function in Young Subjects With Ondine Syndrome
Обзор
This study investigates whether cognitive dysfunction in young patients with congenital central hypoventilation syndrome (Ondine Syndrome) is related to the severity of the disease and dysfunction of the locus coeruleus (a brainstem structure involved in autonomic control and cognition). The investigators will assess cognitive evoked potentials (P300 wave) using high-resolution EEG during attention tasks, pupillometry, brain MRI, neuropsychological tests, and heart rate variability. Patients with different severities of PHOX2B gene mutation (alanine expansions \<27 vs. ≥27) will be compared.
Подробное описание
Ondine Syndrome (congenital central hypoventilation syndrome) is a rare autosomal dominant genetic disorder caused by mutations in PHOX2B. Patients require lifelong nocturnal ventilation and often have cognitive impairments. The cause of cognitive deficits is uncertain: possible hypoxic brain injury or direct effects of PHOX2B mutations on brain regions like the locus coeruleus.
This cross-sectional study includes 21 patients aged 7-20 years with Ondine Syndrome and PARM-type (polyalanine repeat mutation) PHOX2B mutations, divided into moderate (\<27 alanine expansions) and severe (≥27 expansions) groups. During routine hospitalization, participants undergo:
High-resolution EEG with evoked potentials during auditory and visual attention tasks to measure P300 wave amplitude.
Pupillometry during the same tasks to assess locus coeruleus function.
3T (3 Tesla magnetic resonance imaging) MRI (anatomical and diffusion imaging) without sedation.
Neuropsychological assessment with the Vineland test.
Holter ECG to analyze heart rate variability.
The goal is to link locus coeruleus dysfunction to disease severity and explore its impact on cognition, autonomic balance, and sleep."
Вмешательства
- Другое MRI, EEG, Pupillometry
Comparison of P300 wave amplitude, pupillometric responses, functional and structural brain connectivity, socio-adaptive function, cardiac autonomic balance between two phenotypic severity groups of young patients with Ondine Syndrome.
Первичные конечные точки
- Amplitude of the P300 wave (peak-to-baseline) recorded by high-resolution EEG during visual and auditory attention tasks. [Срок оценки: 24 hours]
Вторичные конечные точки (5)
- Ratio of maximal pupil diameter during attention tasks to resting pupil diameter measured by pupillometry. [Срок оценки: 24 hours]
- Functional connectivity parameters of the locus coeruleus measured by high-resolution EEG and 3T brain MRI diffusion imaging. [Срок оценки: 24 hours]
- Scores of socio-adaptive behavior from the Vineland neuropsychological test (Vineland Adaptative Behavior Scales II, with scores ranging from 20 to 160; higher scores indicating better functioning). [Срок оценки: 24 hours]
- Heart rate variability parameters from Holter ECG monitoring. [Срок оценки: 24 hours]
- Structural connectivity parameters of the locus coeruleus measured by high-resolution EEG and 3T brain MRI diffusion imaging. [Срок оценки: 24 hours]
Критерии участия
Критерии включения
- Neonatal diagnosis of Ondine Syndrome.
- PARM-type PHOX2B mutation.
- Age 7 to 20 years.
- Receiving nocturnal ventilation.
- Consent obtained. Affiliated with social security.
Критерии исключения
- Severe autism spectrum disorder preventing test completion.
- Legal guardianship or curatorship.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Франция · 1 центр
- Robert Debré Hospital — Paris
Идентификаторы
NCT: NCT07081464 · APHP241606 · N° IDRCB : 2025-A00156-43