Stephanie Davis, MD, and Thomas Ferkol, MD,  Professors of Medicine at University of North Carolina at Chapel Hill, discuss the value of being part of the Rare Diseases Clinical Research Network (RDCRN). Drs. Davis and Ferkol are co-leaders of the Genetic Disorders Mucociliary Clearance Consortium (GDMCC), a consortium in the RDCRN.

The GDMCC is focus on a number of rare genetic ciliary disorders, but its primary focus has been on primary ciliary dyskinesia (PCD). 

PCD is a rare genetic disorder that results in abnormalities of the cilia. The ciliary dysfunction leads to impaired mucociliary clearance, which results in a myriad of symptoms, most notably chronic bronchitis, and wheezing. Repeated or persistent severe upper respiratory tract infections, typically chronic pansinusitis or suppurative otitis media, and infertility (in males), are also common.

PCD is usually diagnosed via a genetic panel (more than 50 genes have been linked to this condition) and an examination of the ciliary ultrastructure, but not all babies with PCD are picked up via those diagnostic tools. 

At present, there is no treatment available to improve the dysfunctional cilia. Current treatment is limited to controlling the recurring infections and removing excess mucus buildup. 

As noted by Dr. Davis and Ferkol, RDCRN has provided PCD researchers with a framework to collaborate with other researchers that have dramatically advanced our understanding of this disease. The consortium has allowed the groups to work together As Dr Ferkol noted, what he wrote 10 years ago about this rare disease he would like to retract since what he wrote was too vague.  The consortium has also allowed researchers to hone in on the pathophysiology of PCD and that will hopefully lead to targeted therapies. Dr. Davis further noted that the research in PCD has accelerated exponentially in the past few years and they are not at the level of research that is similar to more well known rare conditions, like cystic fibrosis.  The consortium has also provided an opportunity to train the next generation of PCD researchers that will hopefully develop those targeted therapies. 

The consortium consists of eight primary sites:

  • University of North Carolina at Chapel Hill (Chapel Hill, North Carolina)
  • Washington University in St. Louis (St. Louis, Missouri)
  • University of Washington (Seattle, Washington)
  • University of Colorado (Denver, Colorado)
  • Stanford University (Palo Alto, California)
  • National Heart, Lung and Blood Institute (Bethesda, Maryland)
  • The Hospital for Sick Children (Toronto, Ontario)
  • McGill University (Montreal, Quebec)

To learn more about DGMCC visit www1.rarediseasesnetwork.org/cms/gdmcc/ 

To learn more about RDCRN, visit ncats.nih.gov/rdcrn 

CheckRare is collaborating with RDCRN to educate health care professionals one ways they can be part of this network to advance clinical research. Visit our collaboration page at checkrare.com/rare-diseases-clinical-research-network/