Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-15

Study Completion Date

2027-10-15

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

This study investigates whether cognitive dysfunction in young patients with congenital central hypoventilation syndrome (Ondine Syndrome) is related to the severity of the disease and dysfunction of the locus coeruleus (a brainstem structure involved in autonomic control and cognition). The investigators will assess cognitive evoked potentials (P300 wave) using high-resolution EEG during attention tasks, pupillometry, brain MRI, neuropsychological tests, and heart rate variability. Patients with different severities of PHOX2B gene mutation (alanine expansions \<27 vs. ≥27) will be compared.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Relationship Between Breathing and Attention in Children With Ondine Syndrome

NCT06337149

Ondine Syndrome Congenital Central Hypoventilation Syndrome (CCHS)

RECRUITING

Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)

NCT03568669

Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation CCHS +3 more

RECRUITING

Characterization by Automated System on Infantile Spasmes

NCT06266234

Infantile Spasm

RECRUITING

Dynamic Measurement of Cerebrospinal Fluid in Healthy Subjects: Pilot Study

NCT06743347

Cerebrospinal Fluid Healthy Subjects or Volunteers

COMPLETED NA

Natural History of Cerebral Palsy Prospective Study

NCT05576948

Cerebral Palsy

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Ondine Syndrome (congenital central hypoventilation syndrome) is a rare autosomal dominant genetic disorder caused by mutations in PHOX2B. Patients require lifelong nocturnal ventilation and often have cognitive impairments. The cause of cognitive deficits is uncertain: possible hypoxic brain injury or direct effects of PHOX2B mutations on brain regions like the locus coeruleus.

This cross-sectional study includes 21 patients aged 7-20 years with Ondine Syndrome and PARM-type (polyalanine repeat mutation) PHOX2B mutations, divided into moderate (\<27 alanine expansions) and severe (≥27 expansions) groups. During routine hospitalization, participants undergo:

High-resolution EEG with evoked potentials during auditory and visual attention tasks to measure P300 wave amplitude.

Pupillometry during the same tasks to assess locus coeruleus function.

3T (3 Tesla magnetic resonance imaging) MRI (anatomical and diffusion imaging) without sedation.

Neuropsychological assessment with the Vineland test.

Holter ECG to analyze heart rate variability.

The goal is to link locus coeruleus dysfunction to disease severity and explore its impact on cognition, autonomic balance, and sleep."

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Ondine Syndrome (Congenital Central Hypoventilation Syndrome)

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Subjects with severe Ondine syndrome (PHOX2B mutation with ≥ 27 alanine expansions)

MRI, EEG, Pupillometry

Intervention Type OTHER

Comparison of P300 wave amplitude, pupillometric responses, functional and structural brain connectivity, socio-adaptive function, cardiac autonomic balance between two phenotypic severity groups of young patients with Ondine Syndrome.

Subjects with moderate Ondine syndrome (PHOX2B mutation with < 27 alanine expansions);

MRI, EEG, Pupillometry

Intervention Type OTHER

Comparison of P300 wave amplitude, pupillometric responses, functional and structural brain connectivity, socio-adaptive function, cardiac autonomic balance between two phenotypic severity groups of young patients with Ondine Syndrome.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

MRI, EEG, Pupillometry

Comparison of P300 wave amplitude, pupillometric responses, functional and structural brain connectivity, socio-adaptive function, cardiac autonomic balance between two phenotypic severity groups of young patients with Ondine Syndrome.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Neonatal diagnosis of Ondine Syndrome.
* PARM-type PHOX2B mutation.
* Age 7 to 20 years.
* Receiving nocturnal ventilation.
* Consent obtained. Affiliated with social security.