An interventional study of Blood and Urine Sampling and Polysomnography in Congenital Central Hypoventilation Syndrome (CCHS), sponsored by Assistance Publique - Hôpitaux de Paris. Not yet recruiting at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-10-06.
Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Basic science
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.
Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
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CCHS patients :
Control group :
Exclusion Criteria:
CCHS patients :
Control group :
Participants in this arm are individuals diagnosed with Congenital Central Hypoventilation Syndrome (CCHS). They will undergo blood and urine sample collection at various timepoints during sleep and wakefulness. Additionally, they will undergo polysomnography to monitor sleep-related breathing patterns and to assess respiratory function during sleep. The focus is on analyzing biomarkers and dysregulated biological pathways associated with CCHS, and comparing them to matched healthy controls.
Biological: Blood and Urine Sampling · Device: Polysomnography · Other: lung function tests
Participants in this arm are healthy individuals who are matched for sex, age, origin, and BMI with the CCHS patients. They will undergo the same blood and urine sample collection at various timepoints during sleep and wakefulness, and will also undergo polysomnography to assess normal sleep patterns and respiratory function during sleep. This group serves as a comparison to understand the biomarkers and biological pathways in CCHS patients.
Biological: Blood and Urine Sampling · Device: Polysomnography · Other: lung function tests
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.
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.
spirometry, ventilatory response to CO2
Identification of dysregulated biological pathways and biomarkers in blood and urine of CCHS patients.
In the first phase of this study, candidate CCHS-related biomarkers and dysregulated pathways will be identified based on the analysis of the generated omics data. Candidate transcripts and metabolites that meet the criteria listed below will be further tested in the second targeted validation phase in an additional larger cohort of patients and matched controls. These will be sampled and analysed by specific tests (RT PCR or targeted metabolic analysis), that are relevant for each of the candidate transcripts and metabolites. The following criteria will be employed in the analyses of both phases: 1. Significant alteration between patients and matched controls during sleep (and/or wakefulness). 2. Significant alteration between sleep and wakefulness in controls. 3. Significant alteration between sleep and wakefulness in patients. 4. Significant alteration in the targeted validation phase, with a trend similar to the trend identified in phase I.
Time frame: Day 0 to Month 37
Identify new CCHS prognostic biomarkers
New CCHS prognostic biomarkers will be identified by analyzing significant correlations between biomarker levels (such as RNA, metabolites, etc.) and performance on breathing tests in CCHS patients.
Time frame: Day 0 to Month 37
Discover new candidate treatment targets
The evaluation criteria for the identification and prioritization of new candidate treatment targets would include finding a solid scientific rational and defined and prioritized according to their parameters regarding pharmacodynamic-pharmacokinetic (PK/PD), ability to cross the blood brain barrier, drug developmental phase, regulatory status, intellectual property condition, and overall risk-benefit balance.
Time frame: Day 0 to Month 37
Identify relevant repurposed drugs/supplements
Relevant repurposed drugs/supplements will be defined and prioritized according to their parameters regarding pharmacodynamic-pharmacokinetic (PK/PD), ability to cross the blood brain barrier, drug developmental phase, regulatory status, intellectual property condition, and overall risk-benefit balance.
Time frame: Day 0 to Month 37
Plan to share: Yes — The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
Supporting information: Study protocol, Sap, Icf
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Congenital central hypoventilation syndrome
Assistance Publique - Hôpitaux de Paris