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

Assistance Publique - Hôpitaux de Paris

Status: Not yet enrolling

Conditions: Congenital Central Hypoventilation Syndrome (CCHS)

Treatments: Device: Polysomnography; Biological: Blood and Urine Sampling; Other: lung function tests

Study type: Interventional

Funder types: Other

Identifiers

NCT06997146

CCHS Biomarkers

Details and patient eligibility

About

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.

Enrollment: 40 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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40 participants in 2 patient groups

CCHS Patient Group

Other group

Description:

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.

Treatment:

Other: lung function tests

Biological: Blood and Urine Sampling

Device: Polysomnography

Matched Healthy Control Group

Other group

Description:

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.

Treatment:

Other: lung function tests

Biological: Blood and Urine Sampling

Device: Polysomnography