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NCT06997146

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

Sponsor: Assistance Publique - Hôpitaux de Paris

View on ClinicalTrials.gov

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 dysregulated biological pathways in patients with Congenital Central Hypoventilation Syndrome (CCHS) by analyzing blood and urine samples of patients and matched healthy controls collected at multiple timepoints during sleep and wakefulness. In the second phase, these candidate biomarkers and pathways will be validated in a larger cohort of patients and matched healthy controls using targeted assays such as RT-PCR and mass spectrometry-based metabolomic analysis. The primary objective is to uncover molecular signatures that could explain disease mechanisms, while the secondary objective is to explore potential biomarkers and treatment targets that can improve spontaneous breathing and CO₂ responsiveness in CCHS patients. The underlying hypothesis is that multi-omics profiling of blood and urine can reveal actionable insights into the pathophysiology of CCHS and support the development of targeted interventions.

Key Details

Gender

All

Age Range

18 Years - Any

Study Type

INTERVENTIONAL

Enrollment

Start Date

2025-11-01

Completion Date

2028-12-02

Last Updated

2025-10-06

Healthy Volunteers

Yes

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

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.

Locations (1)

Pitié-Salpêtrière Hospital

Paris, France