Pediatric Rare Lung Disease (PRLD) is a term that refers to a heterogeneous group of rare disorders in children. In recent years, this field has experienced significant progress marked by scientific discoveries, multi-center and interdisciplinary collaborations, and efforts of patient advocates. While genetic mechanisms underlie many PRLDs, pathogenesis remains uncertain for many of these disorders. Further, epidemiology and natural history are insufficiently defined, and therapies are limited.
To develop strategies to accelerate scientific advancement for PRLD research, the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health convened a strategic planning workshop. The workshop brought together a group of scientific experts, intramural and extramural investigators, and advocacy groups with the following objectives:
- To discuss the current state of PRLD research;
- To identify scientific gaps and barriers to increasing research and improving outcomes for PRLDs;
- To identify technologies, tools, and reagents that could be leveraged to accelerate advancement of research in this field; and
- To develop priorities for research aimed at improving patient outcomes and quality of life. This report summarizes the workshop discussion and provides specific recommendations to guide future research in PRLD.
The recommendations developed during the workshop were grouped within the following four priority areas.
PRIORITY AREA 1: Establish An Interactive, Data-Driven, PRLD Research Community.
Facilitate connection among PRLD clinicians, investigators, patients/families, and patient communities interested in PRLD research, including international collaboration.
Facilitate sharing patient-level and aggregate clinical and research PRLD data and samples.
Leverage existing clinical research networks and information.
Establish centers of excellence in PRLD research.
PRIORITY AREA 2: Define the clinical phenotypes, epidemiology, and natural history of PRLDs.
Define and refine individual PRLD phenotype definitions.
Study the epidemiology and natural history of individual PRLDs.
Provide aggregated, vetted information on the phenotype, epidemiology, and natural history of specific individual PRLDs to patients/families, clinicians, the medical community, and the general public.
PRIORITY AREA 3: Identify pathogenic mechanisms, biomarkers, and pharmacotherapeutic targets for PRLDs.
Identify genetic factors driving the pathogenesis of specific PRLDs.
Extend analytic toolkits built on the shared infrastructure (Priority Area 1) to use diverse datasets for accelerating PRLD research.
Develop primary cell culture-based models of specific lung microenvironments, e.g., airway, alveolar, vascular, interstitium and apply to the study of PRLDs.
Develop, characterize, and validate available disease models of individual PRLDs.
Identify, validate, and translate biomarkers for clinical application in PRLD.
Identify factors that modify the clinical presentation or course of PRLDs.
PRIORITY AREA 4: Define, measure, and improve clinical outcomes for PRLDs.
Develop novel and refine and validate existing clinically meaningful outcome measures for children with PRLD.
Conduct clinical trials to evaluate and develop novel pharmacotherapeutics for PRLDs.
- Lisa R. Young, M.D., Department of Pediatrics, Medicine, and Cell and Developmental Biology, Vanderbilt University, Nashville, TN
- Bruce C. Trapnell, M.D., Departments of Medicine and Pediatrics, University of Cincinnati School of Medicine, Cincinnati, OH
- Kenneth D. Mandl, M.D., MPH, Departments of Pediatrics and Biomedical Informatics, Harvard Medical School, Computational Health Informatics Program, Boston Children's Hospital
- Steven H. Abman, M.D., University of Colorado Denver
- Brian Athey, Ph.D., University of Michigan, Medical School
- Paul Avillach, M.D., Ph.D., Children's Hospital Boston and Harvard Medical School
- Robin R. Deterding, M.D., University of Colorado Denver
- Thomas W. Ferkol, M.D., Professor, Washington University
- Christine Kim Garcia, M.D., Ph.D, University of Texas, Southwestern Medical Center
- Michael R. Knowles, M.D., University of North Carolina at Chapel Hill
- Jay K. Kolls, M.D., Children's Hospital of Pittsburgh of UPMC
- Darrell N. Kotton, M.D., Boston University
- Jeffrey Krischer, Ph.D., University of South Florida College of Medicine
- Kenneth D. Mandl, M.D., MPH, Harvard Medical School, Boston Children's Hospital
- Shawn Murphy, M.D., Ph.D., Massachusetts General Hospital
- Lawrence M. Nogee, M.D., Professor, Johns Hopkins University School of Medicine
- Megan O'Boyle, Phelan-McDermid Syndrome (PMS) Foundation, and PCORnet
- Xin Sun, Ph.D., BS, University of Wisconsin-Madison
- Daniel T. Swarr, M.D., University of Pennsylvania and The Children's Hospital of Philadelphia
- Bruce C. Trapnell, M.D., Professor, University of Cincinnati
- Jennifer Wambach, M.D., M.S., Washington University School of Medicine
- Jeffrey A. Whitsett, M.D., Professor of Pediatrics, Cincinnati Children’s Hospital Medical Center
- Lisa R. Young, M.D., Associate Professor of Pediatrics, Vanderbilt University
- Carol J. Blaisdell MD, NHLBI
- William A. Gahl, MD, PhD, NHGRI
- Sara Lin, PhD, NHLBI
- Jerry Eu, MD, NHLBI
- Nancy McGarvey, MD, NHLBI
- Lora Reineck, MD, NHLBI
- Anne Zajicek, MD, PharmD, NICHD