NCT06997146 - Identifying Biomarkers & Dysregulated Biological Pathways in Blood and Urine of Congenital Central Hypoventilation Syndrome (CCHS) Patients | Biotech Hunter

Enrollment

Participants

Timeline

Start Date

November 1, 2025

Primary Completion Date

December 2, 2028

Study Completion Date

December 2, 2028

Conditions

Congenital Central Hypoventilation Syndrome (CCHS)

Interventions

BIOLOGICAL

Blood and Urine Sampling

Collection of 10 mL of blood (separated into aliquots for RNA-seq and metabolomic analysis) and 5 mL of urine from participants at various timepoints during sleep and wakefulness. These samples will be used to analyze biomarkers and dysregulated biological pathways related to CCHS.

DEVICE

Polysomnography

Participants will undergo polysomnography to assess sleep patterns and respiratory function during sleep. This will help evaluate any sleep-related breathing abnormalities in patients with CCHS and compare them with healthy controls.

OTHER

lung function tests

spirometry, ventilatory response to CO2

Trial Locations (1)

75013

Pitié-Salpêtrière Hospital, Paris

All Listed Sponsors

lead

Assistance Publique - Hôpitaux de Paris

OTHER