Congenital Central Hypoventilation Syndrome (CCHS)CCHSBiomarkersNCT06997146
Identifying Biomarkers & Dysregulated Biological Pathways in Blood and Urine of Congenital Central Hypoventilation Syndrome (CCHS) Patients
A study testing Blood and Urine Sampling, Polysomnography and lung function tests in people with Congenital Central Hypoventilation Syndrome (CCHS), run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Congenital Central Hypoventilation Syndrome (CCHS)
- What is being tested?
- Blood and Urine Sampling, Polysomnography and lung function tests
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 1 Nov 2025to 2 Dec 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
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- 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)
Who cannot join
- 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)
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- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Alexis PEREZ CALOC Clinical project manager contact
France1 site
Pitié-Salpêtrière Hospital
Paris, 75013
Maxime PATOUT PATOUT, MD, +33142178578, maxime.patout@aphp.fr
Maxime PATOUT PATOUT, MD
About this study
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.
- Being tested
- Blood and Urine Sampling, Polysomnography, lung function tests
- Keywords
- CCHS, BIOMARKERS, POLYSOMNOGRAPHY, VENTILATORY SUPPORT, Metabolomic analyses
- Medical subject headings
- Congenital central hypoventilation syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood and Urine SamplingBiological
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.
PolysomnographyDevice
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 testsOther
spirometry, ventilatory response to CO2
| Study group | Role | What they receive |
|---|---|---|
| CCHS Patient Group | Other | 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. Receives: Biological: Blood and Urine Sampling; Device: Polysomnography; Other: lung function tests |
| Matched Healthy Control Group | Other | 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. Receives: Biological: Blood and Urine Sampling; Device: Polysomnography; Other: lung function tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
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:
- Significant alteration between patients and matched controls during sleep (and/or wakefulness).
- Significant alteration between sleep and wakefulness in controls.
- Significant alteration between sleep and wakefulness in patients.
- Significant alteration in the targeted validation phase, with a trend similar to the trend identified in phase I.
Measured: Day 0 to Month 37
Secondary outcomes (3)
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.
Measured: 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.
Measured: 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.
Measured: Day 0 to Month 37
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 May 2025
- Study start1 Nov 2025 (estimated)
- Primary completion2 Dec 2028 (estimated)
- Study completion2 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Central Hypoventilation Syndrome (CCHS)Studies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06997146
- Sponsor's protocol ID
- CCHS Biomarkers
- Acronym
- CCHSBiomarkers
- Status last verified
- Oct 2025
- First submitted
- 21 May 2025
- Last updated
- 6 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identifying Biomarkers & Dysregulated Biological Pathways in Blood and Urine of Congenital Central Hypoventilation Syndrome (CCHS) Patients
- ClinicalTrials.gov ID
- NCT06997146
- Acronym / sponsor ID
- CCHSBiomarkers / CCHS Biomarkers
- Keywords
- CCHS, BIOMARKERS, POLYSOMNOGRAPHY, VENTILATORY SUPPORT, Metabolomic analyses
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 1 Nov 2025 (estimated)
- Primary completion
- 2 Dec 2028 (estimated)
- Study completion
- 2 Dec 2028 (estimated)
- First posted
- 30 May 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CCHS Patient Group | Other | Biological: Blood and Urine Sampling, Device: Polysomnography, Other: lung function testsParticipants 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. |
| Matched Healthy Control Group | Other | Biological: Blood and Urine Sampling, Device: Polysomnography, Other: lung function testsParticipants 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (13 listed)
- 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
Key exclusion criteria (16 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood and Urine SamplingCollection 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. | Biological | CCHS Patient Group, Matched Healthy Control Group |
| PolysomnographyParticipants 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. | Device | CCHS Patient Group, Matched Healthy Control Group |
| lung function testsspirometry, ventilatory response to CO2 | Other | CCHS Patient Group, Matched Healthy Control Group |
Primary outcome
Identification of dysregulated biological pathways and biomarkers in blood and urine of CCHS patients.
Time frame: 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.
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2025.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alexis PEREZ CALOC Clinical project manager contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood and Urine Sampling, Polysomnography and lung function tests in people with Congenital Central Hypoventilation Syndrome (CCHS), run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 6 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Maxime PATOUT PATOUT, MD (+33142178578, maxime.patout@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of dysregulated biological pathways and biomarkers in blood and urine of CCHS patients. (time frame: Day 0 to Month 37). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2025.