Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)

Recruiting now

Conditions studied: Congenital Central Hypoventilation Syndrome, Congenital Central Hypoventilation, CCHS, CCHS With Hirschsprung Disease, CCHS With Neural Crest Tumor, CCHS With Neuroblastoma

In brief

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.

Key facts

Study ID

NCT03568669

Run by

Debra Weese-Mayer

People needed

1000

Starts

2016-01-01

Expected to finish

2035-12-01

Last updated by the study team

2024-08-09

Who can join

Age: 3 and older, up to 85. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• PHOX2B mutation-confirmed CCHS diagnosis
• Speaks and reads English as a primary language

You may not qualify if…

• Unsuspected or unconfirmed CCHS
• Does not speak or read English as a primary language

Where it is running

• Children's Hospital Los Angeles — Los Angeles, California, United States (enrolling)
• Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States (enrolling)
• Seattle Children's Hospital — Seattle, Washington, United States (enrolling)
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States

Full record on ClinicalTrials.gov

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