The Center for Autonomic Medicine in Pediatrics (CAMP) has 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. The purpose of this IRB-approved research study is to gain a better understanding of the various clinical manifestations of CCHS with advancing age, and as related to each patient's specific 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. The study aims to obtain detailed phenotypic information (information about health and well-being) on patients with CCHS. Participation would require filling out a confidential survey that asks questions regarding phenotype and past medical history. Involvement in the project is completely voluntary and there is no compensation for taking part. However, this project will help us learn more about this devastating disease, with the goal of advancing treatment.

View full study on ClinicalTrials.gov