With the support of a $22 million grant from the National Institutes of Health (NIH) and Three Lakes Partners, a philanthropic family organization, the Pulmonary Fibrosis Foundation (PFF) has launched a study that aims to address difficulties in the diagnosis and treatment of idiopathic pulmonary fibrosis (IPF).
More than 200,000 Americans are living with pulmonary fibrosis, a progressive and deadly lung disease with symptoms that include a persistent dry cough, shortness of breath, and fatigue. However, such symptoms are similar to indications of other diseases, which makes pulmonary fibrosis difficult to diagnose and treat. The most common form of the disease is idiopathic, meaning that it has no known cause.
New technologies that enable scientists to isolate and analyze patients’ precise genetic and molecular differences may offer new hope for IPF patients. The PFF study, called Prospective Treatment Efficacy in IPF Using Genotype for NAC Selection (Precisions), will adopt such a high-tech approach with the goal of achieving three principal objectives:
- To determine whether well-tolerated N-acetylcysteine (NAC) is an effective treatment in a subset of patients with IPF who carry a particular gene variant, TOLLIP rs3750920 T/T. About 25% of IPF patients have this variant.
- To distinguish IPF from non-IPF interstitial lung diseases using unbiased combinations of blood transcriptomics; large-scale molecular analysis of blood samples; and proteomics, an extensive analysis of protein expressions in the body.
- To identify genetic variants that play a role in IPF risk.
Fernando J. Martinez, MD, Weill Cornell Medicine.
“This innovative study highlights the value of a partnership between a broad range of investigators; the PFF; a philanthropic organization, Three Lakes Partners; and the National Heart, Lung, and Blood Institute (NHLBI),” says coprincipal investigator Fernando Martinez, MD. “Most importantly, it seeks to provide patients with interstitial lung disease access to personalized medicine in which the right medication is used for the right patient.”
Coprincipal investigator Imre Noth, MD, adds, “Precisions has the potential to really change the scientific landscape over how we view IPF and interstitial lung diseases, by providing molecular classifications while determining if a pharmacogenetically driven treatment can change outcomes.”
The push toward precision medicine would not be possible without the PFF patient registry and biorepository, which has enrolled more than 2,000 patients with a diverse range of PF disorders at 42 care center network sites nationwide. Registry samples will provide baseline phenotypic data for the study—including, disease symptoms, demographic and social characteristics, and longitudinal data—showing changes over time. More than 1,500 patients in the registry have consented to be contacted for future research.
“The PFF patient registry will serve as an invaluable tool to facilitate more efficient enrollment into the NAC pragmatic trial, and to further define the genetic risk factors influencing the development and potential progression of the disease,” says Gregory Cosgrove, MD, FCCP, chief medical officer of the PFF. “It will hopefully allow for the identification of important biomarkers to assist in the diagnosis and care of patients with PF.”
For further information, visit the Pulmonary Fibrosis Foundation.
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