International registry for Congenital Central Hypoventilation Syndrome
International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry and CCHS Secure Health-hub Advancing Research Efforts
Ann & Robert H Lurie Children's Hospital of Chicago · NCT03088020
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 |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Ann & Robert H Lurie Children's Hospital of Chicago (other) |
| Locations | 1 site (Chicago, Illinois) |
| Trial ID | NCT03088020 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with confirmed PHOX2B mutations associated with CCHS.
Not a fit: Patients without confirmed PHOX2B mutations will not benefit from this study.
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 performed: Other studies have successfully utilized patient registries to enhance understanding of rare diseases, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with PHOX2B mutation-confirmed CCHS. Exclusion Criteria: * Individuals without PHOX2B mutation-confirmed CCHS.
Where this trial is running
Chicago, Illinois
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Congenital Central Hypoventilation Syndrome, CCHS, PHOX2B, Paired-like Homeobox gene PHOX2B, autonomic nervous system dysregulation, control of breathing, Hirschsprung disease, neural crest tumors