Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
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:
🦠 Congenital Central Hypoventilation Syndrome 🦠 Congenital Central Hypoventilation 🦠 CCHS 🦠 CCHS With Hirschsprung Disease 🦠 CCHS With Neural Crest Tumor 🦠 CCHS With Neuroblastoma
🗓️ Study Start (Actual) January 2016
🗓️ Primary Completion (Estimated) December 2030
✅ Study Completion (Estimated) December 2035
👥 Enrollment (Estimated) 500
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 Los Angeles, California, United States
📍 Chicago, Illinois, United States
📍 Philadelphia, Pennsylvania, United States
📍 Seattle, Washington, United States

📋 Eligibility Criteria

Description

    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
Ages Eligible for Study: 3 Years to 85 Years (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 14 June 2018
  • First Submitted that Met QC Criteria 14 June 2018
  • First Posted 26 June 2018

Study Record Updates

  • Last Update Submitted that Met QC Criteria 30 August 2023
  • Last Update Posted 31 August 2023
  • Last Verified August 2023