Clinical trial · Observational
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
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (6)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| CCHS | — | UNRESOLVED | — |
| CCHS With Hirschsprung Disease | — | UNRESOLVED | — |
| CCHS With Neural Crest Tumor | — | UNRESOLVED | — |
| CCHS With Neuroblastoma | — | UNRESOLVED | — |
| Congenital Central Hypoventilation | — | UNRESOLVED | — |
| Congenital Central Hypoventilation Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| NIH Toolbox Cognition Battery | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Neurocognitive Outcomes
- timeFrame
- January 2016 - December 2030
- description
- Longitudinal neurocognitive outcomes in CCHS patients
Secondary outcomes (1)
- measure
- Neourcognitive Outcomes
- timeFrame
- January 2016 - December 2030
- description
- Longitudinal neurocognitive outcomes based on participant age, PHOX2B genotype, and history of respiratory intervention
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 3 Years
- Maximum age
- 85 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available