Topics: Origin: Project type: Development
Name of Applicant: AIS SOUMAYA
Date of application: 14-11-2025
Unit: Department of Genomes & Genetics
Location: Phone: 0142167716
@ Mail: soumaya.ais@aphp.fr
@ PI-Mail: marc.monot@pasteur.fr
Project context and summary: The CCHS Biomarkers project aims to characterize blood transcriptomic profiles in patients with Congenital Central Hypoventilation Syndrome (CCHS) and matched healthy controls. CCHS is a rare genetic disorder (PHOX2B) affecting autonomic and respiratory regulation, particularly during sleep.
Blood samples are collected at different sleep stages (wake, N2, N3, REM, and spontaneous awakening) to identify gene expression signatures associated with ventilatory control, autonomic physiology, and sleep–wake transitions.
The primary objective is to identify biological pathways and potential biomarkers involved in the pathophysiology of CCHS. The study is conducted at the National Reference Center for CCHS (AP-HP Pitié-Salpêtrière Hospital)
Related team publications:TTrang H., Patout M., et al. (2020). Sleep-related ventilatory control and autonomic regulation in Congenital Central Hypoventilation Syndrome. Sleep Medicine Reviews. AP-HP.
Patout M., Lofaso F., Orlikowski D. (2019). Management of ventilatory insufficiency and sleep disorders in rare respiratory diseases. Revue des Maladies Respiratoires. AP-HP.
Patout M., Benjafield A., et al. (2021). Physiological and clinical markers of hypoventilation in rare respiratory disorders. Respiratory Physiology & Neurobiology. AP-HP.
Status: New
