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.

2017 Research Projects of CCHS Network


Attenuation of the Congenital Central Hypoventilation Syndrome (CCHS) Phenotype
In Vitro and In Vivo by HSP90 Inhibition

Dr. Namasivayam Ambalavanan, M.D. Professor Department of Pediatrics, Molecular, and Cellular Pathology, and Cell, Developmental, and Integrative Biology
University Of Alabama, Birmingham

Dr. Namasivayam Ambalavanan, M.D., and his team, will test the inhibition effect of new compounds on heat shock protein 90 (HSP90) in CCHS cell cultures and mouse models. These compounds have promise as potential drug candidates for CCHS. Inhibiting HSP90 can prevent the formation of protein clumps in the cytoplasm. From previous research it is known that PHOX2B mutations produce protein clumps in the cytoplasm which prevent proper functioning of PHOX2B. This project will provide preliminary efficacy and safety data in advance of studies in larger animal models and possible clinical trial investigation.

 


Newly Identified PHOX2B-Regulated Ion Channels as Possible Drug Targets for the
Pharamcological Intervention in Congenital Central Hypoventilation Syndrome (CCHS)

Prof. Diego Fornasari, M.D., Ph.D. Dept. of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

The missing knowledge of genes regulated by PHOX2B limits our comprehension of the pathogenic mechanisms of CCHS and of molecular targets for the development of drugs that, although may not restore the neurodevelopment defects, may improve breathing defects and other dys-autonomic symptoms, with obvious benefits for CCHS patients and their families. In our laboratory, we have recently identified new genes belonging to categories important for the Autonomic Nervous System development and maintenance. Among these there are several encoding ion channels, including those selective for K+ and Na+ ions, important for the modulation of respiratory activity. Preliminary findings in our lab suggested that the expression of these genes can be altered by PHOX2B mutation, indicating that they are potential therapeutic targets for the treatment of respiratory dysfunction. Furthermore, we will exploit the role of PHOX2A as a new molecular target capable of partially rescuing the function of mutant PHOX2B. Our project, by addressing some important aspects of PHOX2B and PHOX2A function, will reveal some of the still unknown molecular mechanisms of disease pathogenesis and validate the newly identified PHOX2B target genes as therapeutic targets.

Research Project Archives

 
2016 Funded Research Projects