International Congenital Central Hypoventilation Syndrome (CCHS) Registry and CCHS SHARE
Launched by DEBRA WEESE-MAYER · Mar 22, 2017
Trial Information
Current as of August 24, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is focused on understanding Congenital Central Hypoventilation Syndrome (CCHS), a rare condition that affects how people breathe, especially during sleep. Researchers from around the world have created a special registry to collect information about patients with CCHS, specifically looking at how the condition changes over time and how it relates to different genetic factors. By gathering this data, the study aims to improve future care and treatment for individuals with CCHS.
To participate in this study, individuals must have a confirmed genetic mutation called PHOX2B, which is linked to CCHS. Participants will fill out a confidential survey about their health and family history. Joining the study is completely voluntary, and there is no payment for participation. However, your involvement can greatly contribute to our understanding of CCHS and may help improve treatments for others in the future.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Individuals with PHOX2B mutation-confirmed CCHS.
- Exclusion Criteria:
- • Individuals without PHOX2B mutation-confirmed CCHS.
About Debra Weese Mayer
Debra Weese-Mayer is a distinguished clinical trial sponsor known for her commitment to advancing medical research and improving patient outcomes. With extensive expertise in clinical trial design and implementation, she focuses on innovative therapies and interventions in the field of pediatrics. Her leadership emphasizes rigorous scientific methodologies and ethical standards, fostering collaboration among multidisciplinary teams to ensure the highest quality of research. Dr. Weese-Mayer's dedication to patient-centric approaches and her advocacy for underserved populations underline her role as a pivotal figure in the advancement of healthcare solutions.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Chicago, Illinois, United States
Patients applied
Trial Officials
Debra E Weese-Mayer, MD
Principal Investigator
Ann & Robert H Lurie Children's Hospital of Chicago
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
Similar Trials