NCT03568669

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
116mo left

Started Jan 2016

Longer than P75 for all trials

Geographic Reach
1 country

4 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress52%
Jan 2016Dec 2035

Study Start

First participant enrolled

January 1, 2016

Completed
2.5 years until next milestone

First Submitted

Initial submission to the registry

June 14, 2018

Completed
12 days until next milestone

First Posted

Study publicly available on registry

June 26, 2018

Completed
12.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2030

Expected
5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2035

Last Updated

August 9, 2024

Status Verified

August 1, 2024

Enrollment Period

14.9 years

First QC Date

June 14, 2018

Last Update Submit

August 6, 2024

Conditions

Congenital Central Hypoventilation SyndromeCongenital Central HypoventilationCCHSCCHS With Hirschsprung DiseaseCCHS With Neural Crest TumorCCHS With Neuroblastoma

Keywords

NIH ToolboxToolboxCongenital Central Hypoventilation SyndromeCCHSAutonomic Nervous System DysregulationPHOX2B

Outcome Measures

Primary Outcomes (1)

  • Neurocognitive Outcomes

    Longitudinal neurocognitive outcomes in CCHS patients

    January 2016 - December 2030

Secondary Outcomes (1)

  • Neourcognitive Outcomes

    January 2016 - December 2030

Interventions

NIH Toolbox Cognition BatteryOTHER

An app-based cognitive assessment of executive function, attention, memory, and language that takes approximately 45 minutes to complete on an iPad

Eligibility Criteria

Age3 Years - 85 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

PHOX2B mutation-confirmed CCHS patients between 3-85 years of age, who speak and read English as a primary language.

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

RECRUITING

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

ENROLLING BY INVITATION

Seattle Children's Hospital

Seattle, Washington, 98105, United States

RECRUITING

MeSH Terms

Conditions

Congenital central hypoventilation syndromeSleep Apnea, Central

Condition Hierarchy (Ancestors)

Sleep Apnea SyndromesApneaRespiration DisordersRespiratory Tract DiseasesSleep Disorders, IntrinsicDyssomniasSleep Wake DisordersNervous System Diseases

Central Study Contacts

Casey Rand, BS

CONTACT

312-227-3300crand@luriechildrens.org

Erin S Lonergan, BS

CONTACT

CAMP@LurieChildrens.org

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Target Duration
20 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Professor of Pediatric Autonomic Medicine, Northwestern University Feinberg School of Medicine; Chief, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital and Stanley Manne Children's Research Institute

Study Record Dates

First Submitted

June 14, 2018

First Posted

June 26, 2018

Study Start

January 1, 2016

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2035

Last Updated

August 9, 2024

Record last verified: 2024-08

Locations

US(4)