Join us at Health Research Day — June 6th at Canton Waterfront Park, Baltimore!   Learn More →
← Back to all trials
Recruiting NCT07081464

Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)

Conditions: Ondine Syndrome (Congenital Central Hypoventilation Syndrome)

Sex: All
Ages: 7 Years – 20 Years
Enrollment: 25
Sponsor: Assistance Publique - Hôpitaux de Paris

Location: Robert Debré Hospital Paris Ap-hp / DRCI

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 \

Eligibility Criteria

Inclusion Criteria: * Neonatal diagnosis of Ondine Syndrome. * PARM-type PHOX2B mutation. * Age 7 to 20 years. * Receiving nocturnal ventilation. * Consent obtained. Affiliated with social security. Exclusion Criteria: * Severe autism spectrum disorder preventing test completion. * Legal guardianship or curatorship.

Interested in this study? View the official listing for contact and enrollment details.

View on ClinicalTrials.gov

Source: ClinicalTrials.gov (NCT07081464). StuddyBuddy aggregates publicly available trial information.