Observational Study of PF Drivers Enrolling People With Family History

Yedida Y Bogachkov PhD avatar

by Yedida Y Bogachkov PhD |

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An observational study is hoping to identify early drivers of pulmonary fibrosis (PF) in individuals with a family history of PF, to better understand the molecular mechanisms that underlie the disease and its progression.

The trial (NCT01088217) — called “Role of Genetics in Idiopathic Pulmonary Fibrosis (GWAS)” — aims to recruit up to 8,000 people, and is enrolling at three sites in Colorado and Tennessee in the U.S., and one in Reykjavik, Iceland. Site and contact information can be found via this link.

Its goal is to investigate genetic factors that might play a role in the development of familial PF.

“To develop transformative therapies, it is essential to understand what initiates the disease and what drives progression of the disease,” Jonathan Kropski, MD, an assistant professor with a specialty in rare lung diseases at Vanderbilt University Medical Center in Tennessee, which is leading the study, said in a press release.

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“To do this, research must focus on the very earliest aspect of the disease — before people develop symptoms and before it can be detected on X-rays or CT scans of the lung,” added Kropski, who is a primary investigator for the trial.

In the study, researchers will sequence single-cell tissue collected from people of all ages — children through older adults — with a family disease history: two or more members diagnosed with either idiopathic PF or idiopathic interstitial pneumonia, a lung disease also marked by tissue scarring or fibrosis. (An idiopathic disease has no known cause.)

Lung tissue samples will allow the researchers to investigate the earliest stages of the disease at the cell level, and potentially identify genes that predispose individuals to PF.

Kropski will be in charge of study operations, analysis, and coordination among its research sites. Nicholas Banovich, PhD, an associate professor at the Translational Genomics Research Institute, a nonprofit medical research center, will oversee genetic analysis of the lung tissue samples. Banovich specializes in human genetics, genomics, and single-cell biology.

The research is being funded by the Three Lakes Foundation, a nonprofit working to bring research, philanthropy, and industry together to improve time to diagnosis and available therapies for PF.

“This study expands our work in established disease. We believe it will provide critical clues in how PF develops and ultimately lead to discovery of new therapies capable of stopping and reversing disease progression,” said Cheryl Nickerson-Nutter, PhD, vice president of research and development at Three Lakes Foundation.

The study is expected to conclude in June 2025. But data analyses will continue for about 10 years, with a goal of identifying genes that predispose people to these interstitial lung diseases (familial or idiopathic), and in developing biomarkers that could aid doctors in more quickly diagnosing and better treating them.