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Clinical Trials in France / NCT06997146
Starting soon Not applicable

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

NCT06997146 · tracked via the Priya Life Science France tracker
Sponsor
Assistance Publique - Hôpitaux de Paris
Phase
Not applicable
Started
2025-11-01
Last updated
2025-10-06

Condition(s) studied

Congenital Central Hypoventilation Syndrome (CCHS)

Investigational drug(s) / intervention(s)

Blood and Urine Sampling →Polysomnographylung function tests

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.

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.

lung function tests: spirometry, ventilatory response to CO2

Study 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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
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.

Primary outcome measure(s)

  • Identification of dysregulated biological pathways and biomarkers in blood and urine of CCHS patients. — Day 0 to Month 37
    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.

Trial sites (1)

FacilityCityRegionStatus
Pitié-Salpêtrière Hospital Paris France

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06997146 on ClinicalTrials.gov ↗ ← All trials in France