CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)

Launched by ANN & ROBERT H LURIE CHILDREN'S HOSPITAL OF CHICAGO · Aug 13, 2024

Keywords

ClinConnect Summary

The CCHS SHARE trial is a research study focused on understanding Congenital Central Hypoventilation Syndrome (CCHS), a condition that affects how well a person breathes, especially during sleep. The goal of this study is to gather long-term data about the natural history of CCHS, which means researchers want to learn more about how the condition develops and changes over time. They will do this by collecting important health information from patients at several specialized centers that treat CCHS.

To participate in this study, individuals of all ages and genders must have a confirmed diagnosis of CCHS, which includes specific test results showing breathing difficulties and a particular genetic mutation known as PHOX2B. If someone is unsure about their diagnosis or has not been tested for the PHOX2B mutation, they would not be eligible for this trial. Participants can expect to have their clinical information recorded and monitored over time, which may help improve understanding and treatment of CCHS in the future. The trial is currently recruiting participants, so there is an opportunity to contribute to valuable research in this area.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.
• Exclusion Criteria:
• • An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically