Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)

Launched by DEBRA WEESE-MAYER · Jun 14, 2018

Keywords

ClinConnect Summary

This clinical trial is studying how congenital central hypoventilation syndrome (CCHS) affects thinking and learning abilities, known as neurocognition, in patients. CCHS is a rare condition that can cause breathing problems, especially during sleep, which might lead to low oxygen levels in the brain. Researchers at the Center for Autonomic Medicine in Pediatrics (CAMP) want to find out how different factors, like age when diagnosed or specific gene changes, influence cognitive health in people with CCHS. To do this, they will use a tool called the NIH Toolbox to measure cognitive skills, and parents or adult participants will fill out a short questionnaire.

To participate in this study, individuals must have a confirmed diagnosis of CCHS with a specific gene mutation (PHOX2B) and be able to read and speak English. The trial is open to both children and adults, ages 3 to 85. Participants will spend about an hour completing assessments, which will help researchers understand how to better manage CCHS and improve long-term outcomes for patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • PHOX2B mutation-confirmed CCHS diagnosis
• • Speaks and reads English as a primary language
• Exclusion Criteria:
• • Unsuspected or unconfirmed CCHS
• • Does not speak or read English as a primary language