Recruiting

Observational Study

Sponsor:

Ann & Robert H Lurie Children's Hospital of Chicago

Code:

NCT06554275

Conditions

Congenital Central Hypoventilation Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purpose of this study is to capture longitudinal natural history data in Congenital Central Hypoventilation Syndrome (CCHS). This will include capturing standardized clinical data from standard of care assessments at several CCHS referral centers. Funding source-FDA OOPD

Conditions

Congenital Central Hypoventilation Syndrome

Study ID

NCT06554275

Start date

Sep 1, 2024

Status verified date

Jul, 2025

Completion date

Aug 31, 2028

Anticipated

Primary completion date

Jun 1, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.

Exclusion Criteria:

An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically

Study Design

Enrollment

125 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Patient Quality of Life [ Time Frame: Up to every 14 months ]
  • Caregiver Burden [ Time Frame: Up to every 14 months ]
  • Patient and Caregiver Sleep [ Time Frame: Up to every 14 months ]
  • Autonomic Symptom Profile [ Time Frame: Up to every 14 months ]
  • Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting. [ Time Frame: Up to every 14 months ]

Central Contacts and Locations

Central contacts

Casey Rand, MSDS

312-227-3300Crand@luriechildrens.org

Erin Lonergan, MS

312-227-3300ersmith@luriechildrens.org

Locations

Ann & Robert H Lurie Children's Hospital of Chicago

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Casey M Rand, MSDS

312-227-3300Crand@luriechildrens.org

Erin Lonergan, MS

312-227-3300Ersmith@luriechildrens.org

Principal Investigator:

Debra E Weese-Mayer, MD

More Information

Sponsor

Ann & Robert H Lurie Children's Hospital of Chicago

Last update posted

Jul 16, 2025

Last verified

Jul, 2025

Keywords

  • Natural History
  • Rare Disease

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Ann & Robert H Lurie Children's Hospital of Chicago on 2025-07-16.