Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)

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.

NCT Number	NCT07081464
Lead Sponsor	Assistance Publique - Hôpitaux de Paris
Conditions	Ondine Syndrome (Congenital Central Hypoventilation Syndrome)
Enrollment	25 participants
Start Date	2025-10-15
Primary Completion	2027-10-15 (estimated)
Study Completion	2027-10-15 (estimated)
Updated on ClinicalTrials.gov	2025-07-23