International CCHS REDCap Registry

The Center for Autonomic Medicine in Pediatrics built the first International CCHS (congenital central hypoventilation syndrome​) REDCap (Research Electronic Data Capture) Registry. This registry is an international collaboration with CCHS patients (and their physicians) recruited from around the world.

We are conducting an IRB-approved research study to gain a better understanding of the various clinical manifestations of CCHS with advancing age, and as related to each patient’s specific mutation in the PHOX2B mutation. With a better understanding of specific CCHS PHOX2B mutations and associated disease manifestations, we will be able to better anticipate healthcare needs and to provide more accurate guidelines to healthcare providers world-wide in caring for patients with CCHS.

Participate in the Study

The study aims to obtain detailed phenotypic information (information about your child’s health and well-being) on patients with CCHS. Participation would require filling out a confidential survey that asks questions regarding the patient’s phenotype and past medical history. Your involvement in the project is completely voluntary and there is no compensation for taking part. However, we feel this project will help us learn more about this devastating disease, with the goal of advancing treatment. We appreciate your help.

If you have any questions and/or are interested in having your child participate in this study, please contact Samantha Gordon at sagordon@luriechildrens.org or at CAMP at Lurie Children's at 312.227.3300 and we will properly consent you/your child. Thank you very much for considering participation in this project.