The Research Study

There are 2 critical unmet needs to improve the diagnosis of IPF: 1) to make the diagnosis is made earlier in the disease process, and 2) a more accurate diagnosis particularly without the need for surgical lung biopsy. Our research is focused on achieving both these goals simultaneously. Currently, most diagnoses of IPF are made when there is advanced fibrosis in a least some or even many parts of the lung, and we believe there is unlikely to be any truly effective treatment to reverse this advanced fibrosis. Consequently, the diagnosis must be made sooner for treatments to be effective. Surgical lung biopsy is needed in about 50% of cases to make the diagnosis of IPF, and this is a major, invasive procedure. Furthermore, it sometimes can’t be done for other reasons, and when performed, yields ambiguous results in 20% of cases. Further complicating the challenge to make an accurate diagnosis, is the need for highly experience physicians in tertiary referral centers to navigate the complexities of diagnosis. There is a need to make the diagnosis of IPF more readily in the community setting without reliance on surgical lung biopsy.

For the past 20 years, we have been studying IPF by collecting cases of both sporadic and familial IPF to study the genetics of IPF. We have determined that there is a strong genetic basis for the disease identifying at least 10 high-risk gene variants. We have obtained serial Chest CTs to identify the CT findings of disease at its earliest detectable stage by Chest CT. We are developing blood tests that identify early lung fibrosis, and we are using these blood tests to identify IPF at its earliest stages before signs and symptoms of pulmonary fibrosis are present. Using this genetic knowledge with blood testing and our comprehensive database, and with the assistance of study participants we have collected and followed for over a decade, we have the ability to study the disease at its earliest stages fulfilling the unmet needs or early diagnosis and a simpler, more accurate diagnosis.

We believe we can move the time-line of diagnosis forward by up to a decade or more with our research using a totally different diagnostic approach. We have now identified pre-clinical IPF (not yet manifesting disease) by Chest CT and blood tests. Using our understanding of the genetics of the disease and blood diagnostic testing, we believe we can change the diagnosis from one that is made based on radiology and surgical lung pathology to that based on genetic risk and changes that can be measured in the blood. By measuring one’s genetic risk, and finding early markers of lung fibrosis in the lung in the blood, we believe we will identify disease accurately and earlier when it is not advanced and more responsive to drug treatments.

We need your help. Just think, how do we find early disease that is undiagnosed and not manifesting any signs or symptoms? The answer is to find individuals at higher risk for IPF and screen them for early disease. At the same time, we need to collect blood samples. These higher-risk individuals are the siblings or children of those with IPF that have on or more of the high-risk genetic variants. Therefore, if you or someone in your family has IPF, we need to study your family members to identify pre-clinical IPF. We need a very large number of individuals for these studies- Why? First, since IPF is quite variable, large numbers of study participants are needed to account for this variation. Secondly, once we identify new genetic and diagnostic blood tests (discovery phase), the studies must be repeated in a second, different set of participants to confirm the findings (validation phase). The combination of disease variation, and the need for discovery and validation testing creates the need for large numbers of participants. Every single participant is making a contribution to our research and is advancing the knowledge of IPF.

• Anyone who has been diagnosed with pulmonary fibrosis
• Anyone who is a close relative of a patient diagnosed with pulmonary fibrosis

Active participation takes about 3 hours.

We will extract DNA from your blood sample and then put a code on it so that your name and personal information are not visible on the tube. The tubes are stored in locked freezers until researchers use your DNA sample for a research project.

At this time we have no genetic results to share. You should not expect to get personal genetic information from this study. Our research is ongoing and we hope this will change in time. It is possible that results may be available in the future. The study team will contact you if results become available.

If you are a healthy relative of an IPF patient and you get a study-sponsored CT scan, the study physicians will inform you about the scan results.

This study is watched over by the investigators running the study and by our ethical review board (COMIRB). You can call COMIRB if you have questions at 303-724-1055.

We are not currently testing any treatments for pulmonary fibrosis and we do not provide clinical care through our research. We are working to better understand the genetics of IPF. It is our plan to study and develop treatments based on genetics, and we have begun animal studies of new therapies for IPF based on our genetic findings. We are not yet testing any treatments in humans

The purpose of medical treatment is to treat your illness and improve your health. The purpose of medical research is to gain knowledge so that treatment can be improved for patients with a particular disease. In research, direct benefit for a specific person is not the main goal.