NCT03568669 · Debra Weese-Mayer
Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
What this study is about
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic and respiratory regulation that frequently alters oxygen delivery to the brain. In CCHS, neurocognitive function has been of great concern because of the potential for repeated hypoxemia and hypercarbia in activities of daily living in addition to hypoventilation with related hypoxemia and hypercarbia during sleep.
View original scientific description
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic and respiratory regulation that frequently alters oxygen delivery to the brain. In CCHS, neurocognitive function has been of great concern because of the potential for repeated hypoxemia and hypercarbia in activities of daily living in addition to hypoventilation with related hypoxemia and hypercarbia during sleep. As the world's leading referral center for CCHS, the Center for Autonomic Medicine in Pediatrics (CAMP) is engaged in ongoing research to identify factors that impact neurocognitive performance in patients with CCHS in order to optimize clinical management and improve long term neurocognitive outcomes. The purpose of this IRB-approved research study is to implement the NIH Toolbox as a standard measurement of cognitive health in patients with CCHS. Further, the study aims to determine how intrinsic and extrinsic disease factors such as age at diagnosis, PHOX2B mutation type and genotype, and nature of past and present artificial respiratory intervention affect the NIH Toolbox Cognitive scores of individuals with CCHS. Eligible participants will complete a 45-minute NIH Toolbox assessment and parents (or adult participants) will complete an associated, 15-minute Research Electronic Data Capture (REDCap) questionnaire.
Interventions
OTHER
NIH Toolbox Cognition Battery
An app-based cognitive assessment of executive function, attention, memory, and language that takes approximately 45 minutes to complete on an iPad
Primary outcome measures
Neurocognitive Outcomes
Time frame: January 2016 - December 2030
Longitudinal neurocognitive outcomes in CCHS patients
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
Where
- Los Angeles, California
- Chicago, Illinois
- Philadelphia, Pennsylvania
- Seattle, Washington
Collaborators
Ann & Robert H Lurie Children's Hospital of Chicago, Seattle Children's Hospital, Children's Hospital Los Angeles, Children's Hospital of Philadelphia
Related conditions & keywords
Frequently asked questions
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Will I receive a placebo instead of treatment?
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Data: ClinicalTrials.gov · synced Aug 9, 2024 · Source of record for eligibility and locations