Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)

Conditions

• CCHS
• CCHS With Hirschsprung Disease
• CCHS With Neural Crest Tumor
• CCHS With Neuroblastoma
• Congenital Central Hypoventilation
• Congenital Central Hypoventilation Syndrome

Eligibility Criteria

Sex

ALL

Age

3 Years - 85 Years

Healthy Volunteers

Not accepted

Interventions

• NIH Toolbox Cognition Battery — OTHER
  An app-based cognitive assessment of executive function, attention, memory, and language that takes approximately 45 minutes to complete on an iPad

Study Details

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 Dates

Start date

Jan 31, 2016

Status verified

Aug 2024

Primary completion

Dec 31, 2030

Completion

Dec 31, 2035

Study Design

Enrollment

1,000 participants (estimated)

Primary Outcome Measure

Neurocognitive Outcomes [ Time Frame: January 2016 - December 2030 ]

Central Contacts

• Casey Rand, BS
  312-227-3300
  [email protected]
• Erin S Lonergan, BS
  [email protected]

Locations (4)

Find similar trials in Los Angeles, CA

Related Studies

• International Congenital Central Hypoventilation Syndrome (CCHS) Registry and CCHS SHARE
  Recruiting · Debra Weese-Mayer · Chicago, Illinois
• CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)
  Recruiting · Ann & Robert H Lurie Children's Hospital of Chicago · Chicago, Illinois