Collecting data on Congenital Central Hypoventilation Syndrome
Official title: CCHS SHARE: A Multi-center Longitudinal Natural History Study
Run by Ann & Robert H Lurie Children's Hospital of Chicago · NCT06554275 · Data updated 2026-11-12
This study is gathering information about Congenital Central Hypoventilation Syndrome from different hospitals and families to better understand the condition and improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 125 (estimated) |
| Sponsor | Ann & Robert H Lurie Children's Hospital of Chicago Academic / other |
| Locations | 1 site (Chicago, Illinois) |
| Status | Recruiting |
| Started | September 1, 2024 |
| Main results expected | June 1, 2028 |
| Study ends | August 31, 2028 |
| Registry record updated | July 16, 2025 |
| Trial ID | NCT06554275 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals of all ages and genders with a confirmed diagnosis of CCHS.
✕Probably not a fit
Patients with an unconfirmed diagnosis of CCHS or those not followed clinically may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to gather longitudinal natural history data on Congenital Central Hypoventilation Syndrome (CCHS) by collecting standardized clinical data from various CCHS referral centers. It involves collaboration between Lurie Children's Hospital and other medical and research institutions, as well as patient advocacy groups, to create a shared resource called CCHS SHARE. The collected data will include patient and family self-reports, medical records, and family history, which will be used to enhance understanding of CCHS and inform future research and treatment development.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with CCHS.
How similar studies have gone: Other studies focusing on the natural history of rare diseases have shown success in improving understanding and treatment approaches, making this a promising area of research.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
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Ann & Robert H Lurie Children's Hospital of Chicago
Chicago, Illinois, United States Recruiting
Study contacts
- Principal investigator: Debra E Weese-Mayer, MD — Ann & Robert H Lurie Children's Hospital of Chicago
- Study coordinator: Casey Rand, MSDS
- Email: Crand@luriechildrens.org
- Phone: 312-227-3300
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.