Identifying Biomarkers & Dysregulated Biological Pathways in Blood and Urine of Congenital Central Hypoventilation Syndrome (CCHS) Patients

Inclusion criteria

CCHS patients :

• Age 18 years old or older;
• Carry a polyA expansion mutation in PHOX2B;
• Receive nocturnal mechanical ventilation;
• Patients that are under the care and treatment in the CCHS center: Hôpital Universitaire Pitié-Salpêtrière
• Written informed consent from the patient
• Affiliated to The French social security except patient on AME (state medical aid)

Control group :

• Age 18 years old or older.
• Healthy with no major medical illnesses in the past year (such as diabetes, cancer, pregnancy, lungs disease).
• Matched for sex, age (+/- 3 years), origin and BMI category with a CCHS patient
• Written informed consent of the control
• Affiliated to The French social security except patient on AME (state medical aid)

Exclusion criteria

CCHS patients :

• Age lower than 18 years old;
• Pregnancy or breastfeeding
• Patients with diaphragmatic (phrenic nerve) pacing;
• Patients with late onset CCHS;
• Patients that were diagnosed with a major medical illnesses/condition other than CCHS in the past year (such as diabetes, cancer, lungs disease, a sleep disorder, or pregnancy)
• Patients that suffer from a sleep disorder such as insomnia, restless legs syndrome, nightmares
• Patients who use medications that are likely to impair sleep structure
• Individuals under guardianship, or permanently legally incompetent adults, under judicial protection, deprived of liberty, patients unable to express their consent.

Control group :

• Age lower than 18 years old;
• Pregnancy or breastfeeding
• Controls that were diagnosed with a major medical illnesses/condition in the past year (such as diabetes, cancer, lungs disease, a sleep disorder, or pregnancy)
• Controls that suffer from a sleep disorder such as insomnia, restless legs syndrome, nightmares
• Controls who use medications that are likely to impair sleep structure.
• Individuals under guardianship, or permanently legally incompetent adults, under judicial protection, deprived of liberty, patients unable to express their consent.