Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- You have a confirmed diagnosis of Congenital Central Hypoventilation Syndrome (CCHS), which means doctors have confirmed you have abnormal breathing during sleep and a specific gene change called a PHOX2B mutation
- You are any age or gender
- You are currently being seen and monitored by a medical team for this condition
Who may not be able to join:
- Your diagnosis of CCHS has not been fully confirmed by doctors
- Your PHOX2B gene mutation has not been confirmed through testing
- You are not currently being regularly seen or followed by a medical team for this condition
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: Debra E Weese-Mayer, MD, Ann & Robert H Lurie Children's Hospital of Chicago
Phone: 312-227-3300
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Patient Quality of Life; Caregiver Burden; Patient and Caregiver Sleep; Autonomic Symptom Profile; Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting.
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.