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Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
Neurocognitive Outcome as a Metric for Evaluating Therapeutic Intervention and Treatment Mechanisms in Congenital Central Hypoventilation Syndrome (CCHS): A Multi-Site Study Using The NIH Toolbox
Who can join
Ages 3 to 85 · All sexes
Full 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
About the study
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.
What is being tested
- NIH Toolbox Cognition Battery (other)
Sponsor: Ilya Khaytin · Participants: 1,000 · Started: 2016-01
Contact the study team
- Casey Rand, BS · Phone: 312-227-3300
Official record on ClinicalTrials.gov — NCT03568669
Locations in the U.S.
| California | Children's Hospital Los Angeles, Los Angeles |
| Illinois | Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago |
| Washington | Seattle Children's Hospital, Seattle |
From ClinicalTrials.gov, data retrieved Oct 3, 2026. Each study sets its own eligibility; the study team decides who can join.