CCHS Research

The CCHS Network is committed to investigational studies into the molecular mechanisms of CCHS, best clinical practices in CCHS, and best patient-centered outcomes research. The CCHS Network partners with CCHS Clinical Centers of Excellence, CCHS research laboratories, respiratory and pharmacological companies, and other CCHS patient organizations to champion research initiatives that will improve patient health outcomes. Learn more about our CCHS Grant Awards.

The CCHS Network relies on the CCHS Research Advisory Board to assess research quality. This board is comprised of CCHS family members who are medical professionals and CCHS clinical specialists. They apply an NIH criteria when judging research excellence.

The CCHS Foundation and the CCHS Research Advisory Board are both subsidiaries of the CCHS Network. Please visit our website at cchsnetwork.org for more information.

CCHS Network One World (NOW) Registry

In the 2016 the CCHS Network was chosen, after a competitive selection process, to partner with the National Organization of Rare Disorders (NORD), to develop a Natural History Study of CCHS. The goal of this registry is to expand the current knowledge of the syndrome, as well as to aid medical professionals and researchers in the identification of important aspects and treatment of CCHS. Please contact the CCHS NOW Registry for more information about this work and how to join this important project.

2018 Research Projects of CCHS Network


Contribution of lower brainstem Phox2b-expressing neurons to asphyxia-induced arousal

Dr. Patrice G. Guyenet was trained at Ecole Normale Supérieure (Paris), College de France (PhD in Neurochemistry) and Yale University (Postdoc). He is currently Professor of Pharmacology at the University of Virginia.

Dr. Guyenet’s proposed study is pre-clinical and discovery-based. Dr. Guyenet and his team seek to identify the neural pathways that cause arousal in response to asphyxia, a life-saving reflex that is defective in CCHS.  Normally, asphyxia, a condition arising when the body is deprived of oxygen, produces arousal from sleep.  But this normal reflex does not occur in CCHS and the failure of this reflex in CCHS has life-threatening consequences. The goal of the present project is to clarify how an increase in blood CO2 or a reduction in blood oxygen produces arousal.  The hope is that a better understanding of how asphyxia produces arousal will eventually provide the means to activate breathing and prevent the damaging effects of repeated hypoxic insults in CCHS patients.


Investigation on Oxidative Imbalance in Congenital Central Hypoventilation Syndrome (CCHS) and Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD)

Dr. Raffaele Piumelli, MD, is a specialist in neonatology and preventive and social pediatrics and head of the Center for Sleep Disordered Breathing and SIDS at the Meyer University Children’s Hospital, Florence, Italy.

Dr. Piumelli and his team are studying oxidative stress in CCHS. The major aim of the study is to assess the possible involvement of the PHOX2B gene in the homeostasis of oxidative defense mechanisms.  In response to stress the body makes harmful substances called Reactive Oxygen Species (ROS).  High ROS concentrations can damage the cells of our body.   Anti-oxidants are protective against ROS compounds.   Therefore there has to be a balance between the production of ROS and the production of antioxidant agents capable of blocking their destructive effects. The term “oxidative stress” refers to a condition of imbalance between the production of ROS and their elimination by anti-oxidants.  Patients suffering from sleep disordered breathing, e.g. those affected by CCHS, have previously been documented by Dr. Piumelli’s group to show consistently high oxidative stress in blood cells.   The aim of this study is to confirm that CCHS patients have elevated oxidative stress indicators, identify oxidative stress markers in the urine of CCHS patients, and test the effectiveness of antioxidant therapies (such as vitamin supplements, adequate diet, and the promotion of mild physical exercise) on relieving oxidative stress.