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Not yet recruiting NCT06997146

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

No phase Interventional Congenital Central Hypoventilation Syndrome (CCHS)

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Blood and Urine Sampling, Polysomnography, lung function tests.
Who it may be relevant to
Registry conditions: Congenital Central Hypoventilation Syndrome (CCHS). Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

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

Primary outcome measures

  • Identification of dysregulated biological pathways and biomarkers in blood and urine of CCHS patients. [Time frame: Day 0 to Month 37]
Secondary outcome measures (3)
  • Identify new CCHS prognostic biomarkers [Time frame: Day 0 to Month 37]
  • Discover new candidate treatment targets [Time frame: Day 0 to Month 37]
  • Identify relevant repurposed drugs/supplements [Time frame: Day 0 to Month 37]

Eligibility criteria

Inclusion criteria

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 criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Allocation
Non-randomized
Model
Parallel assignment
Masking
Open label
Primary purpose
Basic science

Study locations

France · 1 center
  • Pitié-Salpêtrière Hospital — Paris

Identifiers

NCT: NCT06997146 · CCHS Biomarkers

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗