Understanding and improving care for patients with congenital central hypoventilation syndrome (CCHS)
Official title: Progressing toward clinical trial readiness in CCHS: Natural history study to incorporate patient voice, harmonize clinical and registry data, and standardize assessments
Funded at Lurie Children's Hospital of Chicago · NIH-11034579 · Data updated 2026-11-12
This study is looking at congenital central hypoventilation syndrome (CCHS), a rare breathing condition, to learn more about how it affects people differently, so we can find better treatments and improve the lives of those living with it.
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 start | September 5, 2024 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $400,000 |
| NIH project number | 1R01FD008217-01 |
| Project ID | NIH-11034579 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with congenital central hypoventilation syndrome (CCHS), particularly those experiencing significant symptoms or complications.
✕Less likely to help
Patients without a diagnosis of CCHS or those who do not experience significant symptoms related to the condition may not benefit from this research.
What this research studies
This research focuses on congenital central hypoventilation syndrome (CCHS), a rare condition caused by mutations in the PHOX2B gene that leads to severe breathing difficulties. The study aims to gather comprehensive data on the natural history of CCHS, incorporating the experiences and voices of patients to better understand the variability in symptoms and disease severity. By harmonizing clinical and registry data and standardizing assessments, the research seeks to pave the way for future clinical trials and improve management strategies for patients. This approach will help identify effective treatments and enhance the quality of life for those affected by CCHS.
Why it matters
Potential benefit: If successful, this research could lead to improved treatment options and management strategies for patients with CCHS.
How similar studies have gone: While there is limited research specifically on CCHS, similar approaches in other rare diseases have shown promise in improving patient outcomes and treatment development.
Where this research is happening
-
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.