NCT03568669Recruiting
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
Source: ClinicalTrials.gov · Last updated 3 Sept 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 1000 (estimated)
- First submitted
- 14 Jun 2018
- Start date
- Jan 2016
- Primary completion date
- Dec 2030
- Lead sponsor
- Ilya Khaytin
- Diseases
- Neuroblastoma, Childhood cancers
- NCT number
- NCT03568669
What you commit to
- Study type: Observational
- Planned participants: 1000
- From Jan 2016 to the primary completion date, Dec 2030
- 4 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Unsuspected or unconfirmed CCHS
- Does not speak or read English as a primary language
Who the study is looking for
- PHOX2B mutation-confirmed CCHS diagnosis
- Speaks and reads English as a primary language
Age in the registry: 3 years to 85 years · Sex: All · Does not accept healthy volunteers
Sites (4)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Ann & Robert H. Lurie Children's Hospital of Chicago Coordinator of this site? Confirm its status | Chicago | United States | Recruiting |
| Children's Hospital Los Angeles Coordinator of this site? Confirm its status | Los Angeles | United States | Recruiting |
| Children's Hospital of Philadelphia Coordinator of this site? Confirm its status | Philadelphia | United States | Enrolling by invitation |
| Seattle Children's Hospital Coordinator of this site? Confirm its status | Seattle | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.