What's the strategy for curing a rare disease?
In part one of this series, we talked about the challenges associated with understanding a rare disease and developing new therapies. As many of you are well aware, either in your experience as a patient or a medical researcher, it can be very difficult for specific rare diseases to capture the interest of pharmaceutical companies, especially when the cause of that disease is unknown like in PSC. There are many rare diseases (greater than 7000), and they are all competing for funding and attention; because rare disease patients are few and often spread out across the country, it is hard to enroll them in clinical trials in large numbers. That said, enrolling patients in clinical trials is the way forward for understanding PSC and what types of therapies will effectively treat it - we have to do it.
In this post we'll introduce one new part of our strategy for enabling patients to connect to clinical trials. This week we are launching a page with what we hope will become a comprehensive listing of clinical trials currently enrolling PSC patients, plus additional information about trials in complications of PSC such as bile duct cancer. We have put together this resource in response to the tremendous unmet need desperate patients and their families have shared with us over the last year in emails, phone calls, and other messages to us.
Access to interventional trials is especially critical for bile duct cancer (cholangiocarcinoma or CCA), and we hope this page can serve as a starting point for discussions between patient and physician about cutting edge trials for people who have no other options. In the case where financial constraints present a barrier to enrolling in a trial, the National Cancer Institute and other institutes at the National Institutes of Health offer trials that may apply to cancer in PSC where there is coverage of travel and other trial-related expenses. It is our hope that patients, their families, and their physicians have access to easily digestible information about options before they throw in the towel. At the very least they may want to make a contribution to the knowledge base about how to treat PSC and PSC-related cancer. In this way, we hope this new webpage can serve as a collection point for outlining those options, and we ask the entire community to help us make it useful by sending us your feedback.
The clinical trials listing page presents the trials in several categores, most notably: Delaying Progression, Symptom Management, and Cancer. There is also information about observational (non-interventional) trials for PSC, studies to develop better diagnostics for PSC, and as they emerge, we will include information on trials open to pediatric patients and patients with overlapping disorders, such as autoimmune hepatitis.
Delaying Progression: In the absence of a clear understanding of what causes Primary Sclerosing Cholangitis (PSC) and targeted therapies that address that cause(s), it is critically important to develop and test new therapies that delay the progression of PSC, buying patients more time with as much healthy, functional liver and bile duct tissue as possible. We list current trials testing therapies to slow progression of PSC so patients and physicians can see what studies are ongoing and easily access information on how to participate in one of these research studies.
Symptom Management: Anyone with PSC knows that beyond the slow progression of the biliary disease that ultimately causes liver failure, the symptoms associated with liver and bile duct dysfunction are miserable. Severe itching, known as pruritus, sleep disturbances, pain, and sometimes debilitating fatigue are leading symptoms associated with PSC. The trials included in this category are about what is being done to address these issues impacting quality of life in PSC. Unfortunately there is not much going on in this area currently, but knowing where the gaps are helps us to identify research questions or projects that would benefit from more support and attention.
Cancer: People with PSC are at increased risk of developing multiple types of cancer. If you have been diagnosed with cancer in the setting of PSC, check out these trials, which may be relevant to your situation, and discuss with your physician(s) as early as possible whether you should enroll in a clinical trial.
If you are aware of any clinical trial that may be of relevance to patients with PSC that is not listed on this site, please contact us so we can include that information in this list. We will be continually updating the site and adjusting the format to include more information and to make this resource as user-friendly as possible.
It is one of our highest strategic priorities to ensure that PSC patients have more visibility and engagement with pharma and physicians. We welcome any and all questions you may have about how to use this resource to learn more about clinical trials that are currently enrolling patients or are opening soon.
In part three of this series, we'll talk about endpoints, meaning how we measure the activity and progression of a disease like PSC and whether therapies are making a difference. Stay tuned.
Read more about the specific challenges of curing PSC in The Road Forward in PSC: Part 1 of 3