The National Institutes of Health (NIH) and Three Lakes Partners, a philanthropic family organization are sponsoring research on Idiopathic Pulmonary Fibrosis – IPF. These two organizations have awarded $22 million to the Pulmonary Fibrosis Foundation (PFF).
That has declared the launch of a study – PRECISION, led by co-principal investigators Dr. Imre Noth and Dr. Fernando Martinez. The study has aimed to transform the treatment and diagnosis of IPF, by moving it into the era of precision medicine.
The primary objective of the PRECISIONS study
Pulmonary fibrosis is a deadly and progressive lung disease. And more than 200,000 people in the U.S. are suffering from this condition. Idiopathic Pulmonary Fibrosis has no known cause and is the most common type of pulmonary fibrosis.
The symptoms of pulmonary fibrosis include dry, persistent cough, fatigue, and shortness of breath. As similar to indications of other diseases, these may make it difficult to diagnose and treat the condition.
However, new technologies allowing scientists to isolate and assess patients’ precise genetic and molecular differences, may offer new hope for patients with IPF. The PRECISIONS (Prospective tReatment EffiCacy in IPF uSIng genOtype for Nac Selection) study will use this high-tech and meticulous approach to achieve three main objectives:
- Check whether well-tolerated NAC (N- Acetyl-cysteine) is an effective therapy in a subset of IPF patient carrying a specific gene variant, TOLLIP rs3750920 T/T (Nearly 25% of the patients with IPF have this variant)
- Discriminate IPF from non-IPF interstitial lung diseases by using unbiased combinations of blood transcriptomics, proteomics – an extensive analysis of protein expressions in the body, and large-scale molecular analysis of blood samples
- Find genetic variants playing a role in IPF risk
Dr. Martinez, the principal investigator, said, that this innovative study highlights the importance of a partnership between a broad range of investigators, the PFF, the National Heart, Lung, and Blood Institute (NHLBI), and Three Lakes Partners.
Most importantly, it strives to provide interstitial lung disease (ILD) patients access to personalized medicine, where the right medication is used for the right patient.
Potential to change scientific landscape
Dr. Noth added that this study has the potential to change the scientific vision over how they view IPF and ILD. And can do so by providing molecular classifications and checking if a pharmaco-genetically driven treatment can change results.
The promotion of precision medicine may be impossible without the PFF Patient Registry and Biorepository. That has enrolled above 2,000 patients with a varying range of PF disorders at 42 Care Center Network sites nationwide.
The Registry sample provides baseline phenotypic data (symptoms, longitudinal data, and demographic and social characteristics and) for the study, showing variations over time. While over 1,500 patients in the Registry have agreed to be contacted for future research.
Dr. Gregory Cosgrove is the Chief Medical Officer of the PFF. He said that the PFF Patient Registry serves as a valuable tool to assist more efficient enrollment into the NAC pragmatic trial and to further define the genetic risk factors affecting the development and potential progression of the disease.
Hopefully, it will also allow for the identification of important biomarkers to help in the diagnosis and care of patients with pulmonary fibrosis.
PRECISIONS form a basis for a wide range of important future research. Investigators will characterize protein biomarkers and gene expression for the PFF Patient Registry cohort and define these genetic and molecular “signatures” for differentiating IPF from non-IPF interstitial lung diseases.