Preparing for clinical trials in congenital central hypoventilation syndrome by tracking disease over time and including patient perspectives
Progressing toward clinical trial readiness in CCHS: Natural history study to incorporate patient voice, harmonize clinical and registry data, and standardize assessments
This project will gather medical records, registry information, and patient input over time to better understand congenital central hypoventilation syndrome and enable future clinical trials for people with CCHS.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lurie Children's Hospital of Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11184459 on NIH RePORTER |
What this research studies
You would be asked to share your medical records and registry information, complete surveys, and attend standardized visits so clinicians can compare people with CCHS. The team will harmonize existing clinical and registry data, collect consistent breathing and autonomic function measurements, and incorporate patient and caregiver priorities. That combined information will be used to define severity groups, standardize assessments, and identify outcomes that matter for future trials. Participation would not provide a new treatment but would help shape safer, more meaningful clinical trials for the CCHS community.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of congenital central hypoventilation syndrome (including those with PHOX2B mutations) and their caregivers are the ideal participants.
Not a fit: Individuals without CCHS or those seeking immediate experimental treatments are unlikely to receive direct medical benefit from this natural history effort.
Why it matters
Potential benefit: If successful, this work could speed the start of clinical trials and help ensure those trials measure benefits that matter to people with CCHS.
How similar studies have performed: Natural history and registry projects in other rare diseases have helped enable clinical trials, but CCHS lacks standardized measures and comprehensive harmonized data, so this work is building on prior successes while filling important gaps.
Where this research is happening
Chicago, United States
- Lurie Children's Hospital of Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Weese-Mayer, Debra Ellyn — Lurie Children's Hospital of Chicago
- Study coordinator: Weese-Mayer, Debra Ellyn
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.