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

Status: Recruiting
Location: See all (4) locations...
Intervention Type: Other
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 3
Maximum Age: 85
Healthy Volunteers: f
View:

• PHOX2B mutation-confirmed CCHS diagnosis

• Speaks and reads English as a primary language

Locations
United States
California
Children's Hospital Los Angeles
RECRUITING
Los Angeles
Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago
RECRUITING
Chicago
Pennsylvania
Children's Hospital of Philadelphia
ENROLLING_BY_INVITATION
Philadelphia
Washington
Seattle Children's Hospital
RECRUITING
Seattle
Contact Information
Primary
Casey Rand, BS
crand@luriechildrens.org
312-227-3300
Backup
Erin S Lonergan, BS
CAMP@LurieChildrens.org
Time Frame
Start Date: 2016-01
Estimated Completion Date: 2035-12
Participants
Target number of participants: 1000
Sponsors
Collaborators: Seattle Children's Hospital, Children's Hospital Los Angeles, Children's Hospital of Philadelphia, Ann & Robert H Lurie Children's Hospital of Chicago
Leads: Debra Weese-Mayer

This content was sourced from clinicaltrials.gov

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