Locus Coeruleus and CCHS (Congenital Central Hypoventilation Syndrome)

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Jul 22, 2025

Keywords

ClinConnect Summary

This clinical trial is studying children and young adults with a rare condition called Ondine Syndrome, or congenital central hypoventilation syndrome (CCHS). This condition affects how the body controls breathing, especially during sleep. The researchers want to find out if problems with thinking and attention are related to how severe the disease is and how a part of the brain called the locus coeruleus (which helps control automatic body functions and thinking) is working. To do this, they will use tests like brain scans, attention tasks with special EEG equipment that measures brain activity, eye pupil measurements, heart rate monitoring, and thinking skill tests. They will compare patients based on the specific genetic changes they have.

Children and young adults between 7 and 20 years old who were diagnosed with Ondine Syndrome as newborns, have a certain type of genetic mutation (called PARM-type PHOX2B), and use a breathing machine at night may be eligible to join. Participants will be asked to complete attention and thinking tests while having brain and heart activity recorded. Those with severe autism or under legal guardianship cannot take part. This study is not yet recruiting but aims to help better understand how this condition affects the brain and thinking, which may lead to improved care in the future.

Gender

ALL

Eligibility criteria

• 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.