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The voice of the PSC community is important

Each year, PSC Partners asks research grant awardees to share a layman’s summary as part of the process for accepting the grant.  We are excited to share the 2017 PSC-related research grant summaries with you! In order to make this information more digestible and shine a light on each individual study, we will share one summary per week until we’ve shared the details for all of them.  Please feel free to add your comments or thoughts at the bottom of each of these summaries for the researchers!

Title: Exploring the PSC Matrisome: Discovery of Serum Biomarkers for the Stratification and Classification of Patients with Primary Sclerosing Cholangitis

Principal Investigator: Massimo Pinzani, MD, PhD, FRCP, Professor of Medicine and Director of the University College London (UCL), Institute of Liver and Digestive Health (ILDH), Sheila Sherlock Chair of Hepatology, London, UK

Lay Summary

Primary sclerosing cholangitis (PSC) is a disease affecting biliary ducts through which the bile flows from the liver into the intestine to ensure key digestive tasks. PSC is characterized by progressive scarring around the bile duct leading to obstruction and accumulation of bile in the liver. With time, scarring and fibrosis involve more and more portions of the liver causing cirrhosis and liver function insufficiency. Importantly, PSC is a silent disease and it is often discovered when the disease is already advanced. Also, when the disease is diagnosed in an early phase it is extremely difficult to establish the stage of disease evolution without performing a liver biopsy. This causes many difficulties in the management of patients with PSC and greatly hampers the possibility of efficient clinical trials with drugs specifically designed for this liver disease. Our laboratory has proposed a new technology based on the analysis of the scarring tissue obtained from the liver of patients with PSC. We have discovered that some proteins are specific from the scarring tissue of PSC and have an extremely good correlation with the disease stage. The presence and the amount of these proteins could be tested with a simple blood test and therefore become a diagnostic biomarker. The funding provided by PSC Partners will be used to support our efforts to further characterize these biomarkers and perform a clinical validation in our cohort of patients of PSC.

 

Each year, PSC Partners asks research grant awardees to share a lay summary as part of our grant process.  In order to make this information more digestible and shine a light on each individual study, we will share a summary each week (in alphabetical order of the Principal Investigator’s last names).  We welcome your comments or thoughts for the researchers at the bottom of each of these blog posts, and are excited to share this new PSC-related research with you!

Title: Dissecting the Genomic Variants of PSC Outcomes

Principal Investigators:

Konstantinos Lazaridis, MD, Consultant Gastoenterology and Hepatology, Professor of Medicine, Mayo Clinic College of Medicine

Professor Tom Hemming Karlsen, MD, Department of Transplantation Medicine, Division of Surgery, Inflammatory Medicine and Transplantation, Oslo University Hospital, Rikshospitalet

Brief Lay Summary of Study:

Primary sclerosing cholangitis (PSC) is a heterogeneous disease with variable outcomes. At the present time, we are unable to distinguish which patients will rapidly progress to a poor outcome (i.e., need for liver transplant, development of cholangiocarcinoma etc) from those likely to experience a relatively benign disease course. Our research into PSC over the last 5 years has significantly advanced the field and has begun to characterize the genetic predisposing elements underlying the disease development. However, we lack studies about the importance of genetic factors in predicting long-term clinical outcomes of PSC such as disease progression and its complications. We hypothesize that genetic variation plays a key role in the clinical expression, and outcomes of PSC. The objective of this application is to discover the genomic determinants of PSC outcomes (i.e., orthotopic liver transplantation, cholangiocarcinoma, and colon cancer development). Successful outcome of this study will lead to better prediction of PSC progression and introduction of individualized approaches for risk stratification of disease outcomes and ultimately benefit the patients that suffer from PSC.

Primary sclerosing cholangitis (PSC) is a rare liver disease affecting the bile ducts inside and outside the liver. As with most rare diseases, it is difficult to conduct large clinical trials that support the development of effective treatments for PSC.

In 2014, PSC Partners Seeking a Cure collaborated with the NIH Office of Rare Disease Research to create the international PSC Partners Patient Registry. This registry brings information on PSC and those affected by the disease into a single place, and enables academic medical centers and pharmaceutical companies to easily locate patients who opt in to be part of the patient-driven registry. 

The PSC Partners Patient Registry collects data including information on diagnosis, family history, quality of life, medications, surgeries, overlapping diseases, and patient demographics. Our registry is designed to be a resource for researchers, assists in finding appropriate patients for clinical trials, facilitates drug safety monitoring for new drugs, and allows for patient participation at each level of research.

This spring, we hit an important milestone: the PSC Partners Patient Registry reached more than 1,000 patients. We hope that bringing together more PSC patients will speed up research by enabling easier recruitment of participants for clinical trials. This is critically important, as the disease currently has no effective treatments to slow down disease progression.

An unexpected result of enrolling more than 1,000 patients in the registry is that some of those who tried to enroll learned — after answering a series of questions about their diagnosis and symptoms — that they do not actually have PSC. Instead, they have primary biliary cholangitis (PBC), a different disease that also affects the bile ducts. This misdiagnosis is troubling, given that PBC patients could be benefitting from treatments that are effective in slowing the progression of PBC – and they may be missing out on these treatments due to misdiagnosis.

To help clear up any misconceptions, we’ve been working with PSC Support, a nonprofit patient organization in the UK, on an educational campaign to promote a better understanding and more accurate diagnosis of these two rare liver diseases. Given the similarity of their names, PSC and PBC have been confused in medical publications, among regulatory bodies, and in medical practice — as well as in individual patient diagnoses, as seen in our patient registry.

Without an accurate diagnosis, patients with PBC may miss out on important treatments, and PSC patients, who, unlike PBC patients, are at an increased risk for colon and bile duct cancers, may not get important cancer screening.

A clear understanding of the two diseases will likely decrease the chances for misdiagnosis and our well-populated registry of over 1,000 PSC patients can serve to bring us a step closer to finding much-needed therapies for PSC. 

To learn more about the PSC Partners Patient Registry, or to enroll, visit http://pscpartners.org/patient-registry/.

Ricky Safer attends Patient Advocacy Day at the Colorado Capitol

Patient Advocacy Day at the Colorado Capitol

Dear PSC Community,

Access to affordable, high quality health care is essential for patients and families experiencing PSC. Like everyone, PSC Partners has been closely watching congressional health care reform efforts and how they may impact people diagnosed with PSC.

We understand that this is a complex issue. Regardless of the many differing opinions on the topic, we know that our community members struggle with the reality of living with a rare disease, and as a result, you have a unique perspective. We know that stable, affordable health insurance is critically important to people with chronic, rare diseases that require regular observation and, in many cases, hospitalizations, outpatient procedures, and even transplants.

The impact of the American Health Care Act, the House plan to replace the Affordable Care Act, is not clear. It is reassuring that exclusions for pre-existing conditions and lifetime insurance caps would still not be allowed, and that children will continue to be able to stay on their parents’ insurance until age 26. For older and low-income people with PSC, insurance could become more expensive, and some may lose coverage if new Medicaid caps are put in place. It is also concerning to see moves toward reinstating state high-risk pools for people with chronic illness.

These issues are not settled, and no changes have been adopted yet. At present, it is critical that PSC patients and their caregivers join the conversation and ensure that their voices be heard. Please take the initiative to educate yourself about the proposed changes and form your own opinion. We encourage you to contact your legislators to share your unique perspective and experiences, and how they shape your opinions about the American Health Care Act. To find your elected representatives, please visit https://www.senate.gov/ and http://www.house.gov/ and use the “Find Your Senator/Representative” tool in the upper right corner.

PSC Partners knows what it means to live with PSC, and we will continue to do everything we can to make sure others know it, too.  As always, we remain together in the fight–whatever it takes!

Ricky Safer, Chief Executive Officer