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Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)
Sponsor: Assistance Publique - Hôpitaux de Paris
Summary
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.
Official title: Study of the Impact of Locus Coeruleus Dysfunction on Cognitive Function in Young Subjects With Ondine Syndrome
Key Details
Gender
All
Age Range
7 Years - 20 Years
Study Type
OBSERVATIONAL
Enrollment
25
Start Date
2025-10-15
Completion Date
2027-10-15
Last Updated
2025-07-23
Healthy Volunteers
Not specified
Interventions
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.
Locations (1)
Robert Debré Hospital
Paris, Ap-hp / DRCI, France