Blood and urine may hold clues to rare breathing condition

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: CCHS patients : 1. Age 18 years old or older; 2. Carry a polyA expansion mutation in PHOX2B; 3. Receive nocturnal mechanical ventilation; 4. Patients that are under the care and treatment in the CCHS center: Hôpital Universitaire Pitié-Salpêtrière 5. Written informed consent from the patient 6. Affiliated to The French social security except patient on AME (state medical aid) Control group : 1. Age 18 years old or older. 2. Healthy with no major medical illnesses in the past year (such as diabetes, cancer, pregnancy, lungs disease). 3. Matched for sex, age (+/- 3 years), origin and BMI category with a CCHS patient 4. Written informed consent of the control 5. Affiliated to The French social security except patient on AME (state medical aid) Exclusion Criteria: CCHS patients : 1. Age lower than 18 years old; 2. Pregnancy or breastfeeding 3. Patients with diaphragmatic (phrenic nerve) pacing; 4. Patients with late onset CCHS; 5. 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) 6. Patients that suffer from a sleep disorder such as insomnia, restless legs syndrome, nightmares 7. Patients who use medications that are likely to impair sleep structure 8. Individuals under guardianship, or permanently legally incompetent adults, under judicial protection, deprived of liberty, patients unable to express their consent. Control group : 1. Age lower than 18 years old; 2. Pregnancy or breastfeeding 3. 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) 4. Controls that suffer from a sleep disorder such as insomnia, restless legs syndrome, nightmares 5. Controls who use medications that are likely to impair sleep structure. 6. Individuals under guardianship, or permanently legally incompetent adults, under judicial protection, deprived of liberty, patients unable to express their consent.