NIH Awards $7.5 million to ramp up clinical trials for rare, genetic airway diseases

October 9, 2019

To continue the push toward clinical trial readiness for individuals with rare diseases, the National Center for Advancing Translational Sciences, in partnership with other NIH institutes and centers, announced its continued support of the Rare Disease Clinical Research Network, including $7.5 million over the next five years for the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC), led by co-principal investigators Stephanie Duggins Davis, MD, Brewer Professor and Chair of the Department of Pediatrics at the University of North Carolina School of Medicine, and Thomas Ferkol, MD, the Alexis Hartmann Professor of Pediatrics at Washington University in St. Louis.

The consortium consists of pulmonary scientists, immunologists, and clinical investigators from across North America, working with collaborators across the globe to advance our understanding and treatment of rare genetic causes of airway diseases.

The consortium was formed 15 years ago under the leadership of Michael Knowles, MD, the Michael E. Hatcher Distinguished Professor of Medicine, and Margaret Leigh, MD, Professor of Pediatrics, both at UNC-Chapel Hill. At that time, the genetic bases of primary ciliary dyskinesia – a rare genetic condition of the motile cilia that leads to chronic upper and lower respiratory tract disease, left-right laterality defects, and infertility – were largely unknown. Since that time, research generated from the consortium has rapidly advanced our understanding of the genetics of primary ciliary dyskinesia. A growing number of disease-associated genes and pathogenic mutations have been identified. These new insights have allowed researchers to define the clinical features, revolutionize diagnostics, reveal previously unrecognized genotype-phenotype relationships in primary ciliary dyskinesia, and initiate clinical trials.

While primary ciliary dyskinesia has been a main focus for the GDMCC, researchers and collaborators within the consortium have also characterized other mucus-forming airway diseases, including atypical cystic fibrosis, idiopathic bronchiectasis, and non-tuberculous mycobacterial infection.

In this grant cycle, the consortium will continue to evaluate clinical manifestations and genotype-phenotype relationships in primary ciliary dyskinesia as well as broaden its scope by identifying and characterizing primary immunodeficiencies, which often have upper and lower respiratory manifestations that resemble primary ciliary dyskinesia and other airway diseases. Under the leadership of Dr. Davis, Physician-in-Chief at the N.C. Children’s Hospital and the Charles Everett and Katherine M. Brewer Professor of Pediatrics at UNC, the goal of the consortium is to bring meaningful clinical trials to patient populations with rare lung diseases.

The consortium consists of eight main research centers, working in close partnership with patient advocacy organizations, such as the PCD Foundation, Immune Deficiency Foundation, and the Jeffrey Modell Foundation.

In addition to Drs. Davis, Ferkol, Knowles, and Leigh, other investigators include Adam Kimple, MD, PhD, at UNC; Scott Sagel, MD, PhD, at the Children’s Hospital Colorado; Margaret Rosenfeld, MD, MPH, at the Seattle Children’s Hospital; Adam Shapiro, MD, and Don Cuong Vinh, MD, at the McGill University Health Centre; Sharon Dell, MD, at the Hospital for Sick Children, Toronto, Canada; Carlos Milla, MD, at the Stanford University Medical Center; and Kenneth Olivier, MD, MPH, at the National Heart, Lung, and Blood Institute.

The Genetic Disorders of Mucociliary Clearance Consortium is supported by the NCATS/NHLBI grant 2U54HL096458. Visit the GDMCC website at https://www.rarediseasesnetwork.org/cms/gdmcc for more details.

Media contact: Mark Derewicz, 984-974-1915