International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry and CCHS Secure Health-hub Advancing Research Efforts

What this Trial Is About

Researchers are conducting an international study focused on Congenital Central Hypoventilation Syndrome (CCHS), a disorder affecting breathing control and autonomic nervous system regulation. This research aims to build a patient registry to better understand how CCHS develops and changes over time, especially in relation to specific PHOX2B gene mutations. The study is designed to help improve early detection, recognize the range of symptoms, and guide healthcare providers worldwide in caring for patients with CCHS. Participants join the International CCHS REDCap Registry by providing detailed health information through confidential surveys completed remotely, using a secure online system. The registry collects de-identified data stored safely to support research efforts, and participants may also choose to share their data with broader platforms like CCHS-SHARE and the NIH Global Rare Disease Registry. These platforms enable data sharing among researchers to advance understanding and treatment of rare diseases. During the study, participants provide information about their health history and symptoms. Data collected is analyzed over many years to observe disease progression and the impact of different PHOX2B mutations. Participation is voluntary, with no compensation, and is done remotely. The primary outcome is to track the longitudinal phenotype of CCHS over 20 years, helping researchers and clinicians better anticipate healthcare needs and improve patient care.

International Congenital Central Hypoventilation Syndrome (CCHS) Registry and CCHS SHARE