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

NCT ID: NCT06997146

Last Updated: 2025-10-06

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 40 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-11-01
• Study Completion Date: 2028-12-02

Brief 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.

Conditions

Congenital Central Hypoventilation Syndrome (CCHS)

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

CCHS Patient 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.

Group Type: OTHER

Blood and Urine Sampling

Intervention Type: BIOLOGICAL

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

Intervention Type: DEVICE

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

Intervention Type: OTHER

spirometry, ventilatory response to CO2

Matched Healthy Control Group

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.

Group Type: OTHER

Blood and Urine Sampling

Intervention Type: BIOLOGICAL

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

Intervention Type: DEVICE

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

Intervention Type: OTHER

spirometry, ventilatory response to CO2

Interventions

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.

Intervention Type: BIOLOGICAL

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.

Intervention Type: DEVICE

lung function tests

spirometry, ventilatory response to CO2

Intervention Type: OTHER

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Pitié-Salpêtrière Hospital

Paris, , France

Countries

France

Central Contacts

Maxime PATOUT PATOUT, MD

Role: CONTACT

maxime.patout@aphp.fr

+33142178578

Alexis PEREZ CALOC Clinical project manager

Role: CONTACT

alexis.caloc@aphp.fr

Facility Contacts

Maxime PATOUT PATOUT, MD

Role: primary

maxime.patout@aphp.fr

+33142178578

Other Identifiers

CCHS Biomarkers

Identifier Type: -

Identifier Source: org_study_id