Status:
NOT_YET_RECRUITING
Identifying Biomarkers & Dysregulated Biological Pathways in Blood and Urine of Congenital Central Hypoventilation Syndrome (CCHS) Patients
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Congenital Central Hypoventilation Syndrome (CCHS)
Eligibility:
All Genders
18+ years
Phase:
NA
Brief Summary
The CCHS study is a prospective, open-label, monocentric, interventional study with diagnostic and prognostic objectives, conducted in two phases. The first phase aims to identify biomarkers and dysre...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
November 1 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 2 2028
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT06997146
Start Date
November 1 2025
End Date
December 2 2028
Last Update
October 6 2025
Active Locations (1)
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1
Pitié-Salpêtrière Hospital
Paris, France, 75013