MedTrace Logo

Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)

NCT07081464 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2025-07-23

No results posted yet for this study

Summary

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.

Conditions

  • Ondine Syndrome (Congenital Central Hypoventilation Syndrome)

Interventions

OTHER

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.

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • François-Xavier MAUVAIS, MD, PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
7 Years
Max Age
20 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-10-15
Primary Completion
2027-10-15
Completion
2027-10-15

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07081464 on ClinicalTrials.gov