International registry for Congenital Central Hypoventilation Syndrome
Official title: International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry and CCHS Secure Health-hub Advancing Research Efforts
Run by Ann & Robert H Lurie Children's Hospital of Chicago · NCT03088020 · Data updated 2026-11-12
This study is creating a global registry to collect information about people with Congenital Central Hypoventilation Syndrome to better understand how the condition affects them over time.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | Ann & Robert H Lurie Children's Hospital of Chicago Academic / other |
| Locations | 1 site (Chicago, Illinois) |
| Status | Recruiting |
| Started | June 24, 2013 |
| Main results expected | December 31, 2031 |
| Study ends | December 31, 2032 |
| Registry record updated | September 3, 2026 |
| Trial ID | NCT03088020 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals with confirmed PHOX2B mutations associated with CCHS.
✕Probably not a fit
Patients without confirmed PHOX2B mutations will 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 establishes the first International CCHS Registry to collect natural history data on patients with Congenital Central Hypoventilation Syndrome (CCHS). It aims to enhance understanding of the disease's progression and clinical manifestations over time. The registry will utilize the REDCap system for secure data capture and will involve collaboration with CCHS clinicians, scientists, and advocacy groups worldwide. Participants will be recruited from existing patient referrals and online platforms, contributing to a comprehensive database that may improve early recognition and management of CCHS.
Why it matters
Potential benefit: If successful, this registry could lead to improved early diagnosis and management strategies for patients with CCHS.
How similar studies have gone: Other studies have successfully utilized patient registries to enhance understanding of rare diseases, indicating potential for success in this approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with PHOX2B mutation-confirmed CCHS. Exclusion Criteria: * Individuals without PHOX2B mutation-confirmed CCHS.
Where it's running
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Ann & Robert H. Lurie Children's Hospital of Chicago and the Stanley Manne Children's Research Institute
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, BS
- Email: Crand@luriechildrens.org
- Phone: 312-227-3300
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Collecting data on Congenital Central Hypoventilation Syndrome
This study is gathering information about Congenital Central Hypoventilation Syndrome from different hospitals and families to better understand the condition and improve future treatments.
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Assessing neurocognition in patients with congenital central hypoventilation syndrome
This study is trying to see how a special set of tests can help understand the thinking and memory skills of people with congenital central hypoventilation syndrome and what factors might affect their cognitive health.
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Locus Coeruleus and PHOX2B Mutations in Ondine Syndrome
Researchers will see if cognitive issues in young people with Ondine Syndrome relate to the severity of their PHOX2B mutation and dysfunction in the locus coeruleus by using EEG, pupil measurements, MRI, cognitive tests, and heart rate data.
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.