CCHS Studies

The Center for Autonomic Medicine in Pediatrics (CAMP) at Ann & Robert H. Lurie Children’s is working with an international group of physicians and scientists to advance research and care for patients and families with CCHS (Congenital Central Hypoventilation Syndrome) around the world. Together, we are currently conducting extensive studies to advance our understanding of CCHS. This will allow improved diagnosis and a target for future treatment options. As CCHS is a very rare disease, participation of families around the world affected by CCHS is paramount to advancing this research. We need your help.

If you are interested in helping us advance CCHS research, you can contribute in the following ways:

International CCHS Registry

The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children's has collaborated with doctors from around the world to build the International CCHS (Congenital Central Hypoventilation Syndrome) REDCap (research electronic data capture) Registry. 

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 (the disease defining gene). 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 information about the health and well-being of individuals 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, please contact CAMP at Lurie Children’s at CAMP@luriechildrens.org or 312.227.3300. If you are interested in having your child participate in this study, please fill out our online form​. Thank you very much for considering participation in this project.

CCHS Wearable Technology Study

At the Center for Autonomic Medicine in Pediatrics, we continually strive to provide the best possible care and produce the best possible outcomes for all our patients. In the ever-advancing field of technology, incredible devices are being made with the potential to revolutionize how we monitor and collect data on our patients. Such devices allow for precise and continuous cardiac, respiratory, activity, and sleep monitoring while patients are in their own homes. This study will validate this technology for use in patients with CCHS. This is a first step toward better understanding how CCHS affects patients at home or during everyday activities. The study will help us establish biomarkers and indications of normal and/or abnormal processes taking place in the body by expanding monitoring to the home setting. Ultimately, this will help us advance knowledge to improve care and treatment of individuals with CCHS.

Click here to read more about our Wearable Technology Project

Tooth Fairy Study

The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children's is working with a group of international collaborators with expertise in genetics to identify gene(s) or biomarkers which may contribute to or cause CCHS (Congenital Central Hypoventilation Syndrome). If they are expected to lose teeth in the near future, participation in this study would require them sending in this lost tooth to our collaborators. Additionally, it would require signed consent form(s). It is very important for this type of project that we have as many participants as possible, especially in a disease as rare as CCHS. We feel that this project will go a long way toward improving diagnosis and care of individuals with CCHS in the future.  

Click here to read about our Tooth Fairy Project

Please contact CAMP at CAMP@LurieChildrens.org or 312.227.3300 regarding tooth collection and preparation if you have any questions or concerns.

Toolbox Study

Children with disorders of respiratory and autonomic regulation such as CCHS sometimes have impairments of neurocognitive ability due to their illness. We want to learn more about these neurocognitive difficulties, what factors contribute to these difficulties, and how these difficulties affect children and young adults with CCHS over time. This project will study the cognitive development of children and young adults with CCHS.  

This study requires an in-person 45-minute iPad assessment featuring game-like tests using an application called the NIH Toolbox. If you are interested in learning more about this study and how to participate, please contact CAMP at CAMP@LurieChildrens.org​ or 312.227.3300.