Locus Coeruleus and PHOX2B Mutations in Ondine Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This cross-sectional study enrolls 21 children and adolescents with Ondine Syndrome and PARM-type PHOX2B mutations, aged 7–20, who require nocturnal ventilation. Participants are grouped by mutation severity and undergo high-resolution EEG with P300 measurements during attention tasks, pupillometry, brain MRI, neuropsychological testing with the Vineland, and Holter ECG to assess heart rate variability. The aim is to determine whether locus coeruleus dysfunction correlates with disease severity and to explore links to cognition, autonomic regulation, and sleep. The study is observational and does not involve an intervention beyond standard clinical procedures and non-sedated imaging. Data will help clarify potential neural mechanisms underlying cognitive impairment in this population.

Why it matters

Who can join: the full rules

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.

Exclusion Criteria:

* Severe autism spectrum disorder preventing test completion.
* Legal guardianship or curatorship.

Where it's running

• Robert Debré Hospital
  Paris, Ap-hp / DRCI, France Recruiting

Study contacts

• Principal investigator: François-Xavier MAUVAIS, MD, PhD — Assistance Publique - Hôpitaux de Paris
• Study coordinator: François-Xavier MAUVAIS, MD, PhD
• Email: francois-xavier.mauvais@aphp.fr
• Phone: +33140038245

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.