Thinking and learning skills in people with congenital central hypoventilation syndrome
Measures thinking skills in people with a rare breathing and nervous system disorder.
Plain-language title generated from the registry record
Registry title: Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
Key facts
- Where
- Chicago, Los Angeles, Philadelphia, and Seattle, United StatesSee the 4 sites
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 3 and 85 years old?
Source: NCT03568669, who can take part
Where in United States
- Ann & Robert H. Lurie Children's Hospital of ChicagoChicago, United StatesTaking people
- Children's Hospital Los AngelesLos Angeles, United StatesTaking people
- Children's Hospital of PhiladelphiaPhiladelphia, United StatesEnrolling by invitation
- Seattle Children's HospitalSeattle, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Ilya Khaytin
- Trial code
- NCT03568669
- Record updated
- 3 September 2026
- Original 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.Read full original descriptionShow less
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
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.
Inclusion: PHOX2B mutation-confirmed CCHS diagnosis; Speaks and reads English as a primary language.
Exclusion: Unsuspected or unconfirmed CCHS; Does not speak or read English as a primary language.