Clinical Trials & Studies
Many patients of PBC hear about clinical trials for new therapies and wonder, what is in it for me? Can I participate? What do I have to do to qualify? Which is the best fit for me? There are some very stringent rules and regulations that govern participation in a clinical trial for a drug therapy. Will I qualify? If I don’t, what can I do? Will it help me or hurt me? Will it be easy to participate? Will there be side effects? Why should I consider participating in a clinical trial or study? The simple answer is “because you can.”
This blog post has been entered in the Patients Have Power Writing Contest run by Clara Health designed to raise awareness about clinical trials. I am passionate about this cause and hope it will help raise much needed awareness about the power of breakthrough research. But my sharing my story about clinical trials is also a personal journey that I hope engages patients to pursue clinical trials. You don’t have to have a rare disease like I do. Research is on-going in many “regular diseases” like diabetes, heart disease and kidney disease. So what is a clinical trial?
First, let’s begin with the basic definitions. According to the U.S. National Institutes of Health: “A clinical study involves research using human volunteers (also called participants) that is intended to add to medical knowledge. There are two main types of clinical studies: clinical trials (also called interventional studies) and observational studies. ClinicalTrials.gov includes both interventional and observational studies.” 1 “Patients have power” is a tag line that Clara Health uses to help reach potential patients and link them with clinical trials that may help them. It is also a powerful statement.
Why do I choose to participate in clinical trials? Because I have a rare disease and I can help further the knowledge of this disease by donating my time and body to this cause. This is also why I am a patient advocate, to help other patients in their disease journey. I also hope that in participating in a trial that I will personally gain a benefit (less symptoms, slower progression of my chronic disease). My foremost reason for participating in clinical trials is that my daughter has tested positive for the mitochondrial antibodies for the disease that I have, Primary Biliary Cholangitis or PBC2. PBC is an autoimmune, chronic (long lasting), progressive (gets worse over time) rare liver disease. While my disease has progressed from early to late stage in a short time frame (this is abnormal in PBC, progression is normally slow over decades), I am hopeful that should my daughter eventually develop PBC, which is very unlikely according to many experts, that her journey would be different and she could be successfully treated or even cured.
I have participated in several clinical trials and studies over the past 10 years. One such clinical trial was a Phase 2 interventional trial where I received a medication and reported to the research team all my feedback about treatment, side effects, and if it worked or not. I’ve also participated in observational studies where I have given blood and urine samples for on-going research into the genetics and immunology of my disease, and I am in the last phase of participation in a clinical study on the use of imaging in liver disease to determine the effectiveness of measuring liver stiffness to gauge liver disease. I was recruited for this specific clinical study because I had known biopsy status as stage 0-1, normal liver function based on my blood chemistries, and no other health complications.
Nearly two years ago, while at my first imaging appointment for the clinical trial I am currently enrolled in, I had two separate type of imaging tests done. Both came back with very strange and unexpected results. So much so that the study doctor called me that evening to tell me that there were disturbing results that indicated my liver is now cirrhotic (scarred). We know historically from previous clinical trials that when a patient takes ursodeoxycholic acid (Ursodiol or Urso) and the liver enzymes return to normal range within 6-12 months of beginning therapy, that the progression of this disease is slowed dramatically compared to not taking this medication. When I first was diagnosed by a liver biopsy, I was told I was at very early stage (0-1) of this disease. Stage 0-1 indicates mild inflammation of the small bile ducts inside the liver. I reacted positively when I began therapy 10 years ago and within only a few short months my liver enzymes returned to normal. So why had these imaging tests indicated that my liver disease had progressed to stage 4 (cirrhosis), the last stage of this disease before complete liver failure?
While this may not seem like a big deal to the average reader, anyone with PBC (or any liver disease) knows that cirrhosis means there is major scarring of the liver and the function of the liver is diminished significantly3. Having cirrhosis means a completely different outlook for me and the complications that are now part of my life as constant monitoring is required. Cirrhosis leads to liver failure. Liver failure leads to two things: a liver transplant or death. No one can live without a liver. Complications from cirrhosis leading to liver failure are scary and include aortic hypertension, enlarged spleen, ascites (fluid in the abdomen), varices (bleeding of the vessels in the esophagus) and hepatic encephalopathy (a build-up of chemicals in the blood that effect the brain). Most of these complications can lead to death if not treated immediately, even if the liver is still functioning, albeit poorly.
My husband and I own a cruising sailboat and it is our dream and our plan to cruise the warm climates on our sailboat when he retires in a few short years. Having grown up in Hawaii, we love the ocean. Thinking I just needed to make sure I had enough Ursodiol on hand for months at a time has now changed to thinking I could have a catastrophic bleed that requires immediate medical intervention or I could die. Big difference in a retirement plan. What if we are on some remote atoll in the middle of the south pacific and my liver fails? How can I get a liver transplant when there are not even any medical centers or hospitals capable of a blood transfusion within 100 miles? Unfortunately, doctors won’t give me a transplant now so I can go out and enjoy my retirement after working for 40 years. Transplants are reserved for the very sickest of patients who only have weeks or a few months to live without it. So now my life hinges on a tightrope of surviving long enough to get a transplant but not being too sick to be rejected for a transplant. In this disease, that fine line can be crossed in a matter of days or weeks. To sail or not to sail…. That is no longer the question in my world. I will sail. I will do so knowing now that a simple imaging test can help me monitor my liver health and when or if it becomes so advanced that I can’t reasonable risk being on a sailboat at some remote atoll, I may simply have to do my cruising closer to civilization and excellent medical care. Either that or I go sail and when my liver fails, I enjoy what time I have doing what I love the most in life. I’m not there yet so today that discussion is still hypothetical.
This leads me back to the study I am participating in. If I had not participated, I would not have had any idea that my liver disease had progressed so quickly and that my retirement plan now was complicated by my health situation. I would have blithely set sail with my medication and gone out there into the big blue ocean to explore. I will still do so, but with the mindset that I must be vigilant about my own health in a way I never had anticipated but am willing to do so we can enjoy our retirement we worked so hard to get to. This study I was previously in has saved my life, literally and figuratively in my view.
I am just wrapping up my participation in a third clinical trial – this one for pruritis (severe itching). PBC causes a severe itch in more than half of patients with this disease. It’s not like a mosquito bite or rash itch. It’s deep under the skin and no amount of scratching ever helps. It does cause me to sleep poorly, have open skin wounds from scratching, and other manifestations. The good news is that this medicine did help my itching and I am hopeful it goes on to gain FDA approval in the next year or two. It takes years to get a drug from concept to approval and it cannot be accomplished without human clinical trials.
Coming full circle, this is my personal story about clinical trials and why I believe as a rare disease patient and advocate, it is critical that anyone who wants to participate in a trial has the ability to do so. For some, it is there only hope. A television show currently on the Discovery Channel entitled “F1rst In Human”4 shows viewers why people are willing to participate in the first clinical trials in humans for a specific therapy… it’s there only or best hope for beating their disease. In the rare disease community, especially as most rare disease patients are children, it’s a very difficult situation. For me, and many like me with PBC, it’s not a matter of life or death at his point, it’s a matter of the quality of that life.
If you are a patient or care for someone who is and are considering whether a clinical trial may be appropriate, here is a resource that helps match patients and clinical trials, making the process much easier than searching websites, hoping your doctor mentions it to you or you just stumble upon such a study. The Clara Health6 (www.clarahealth.com ) platform is built with the patient in mind. It is a tool to help navigate the often-complicated world of clinical trials and helps match you with opportunities you may be interested in. Clara Health has some great guides on clinical trials (https://guides.clarahealth.com/). You can also visit the NIH website for clinical trials5 at www.clinicaltrials.gov.
As a Breakthrough Crew Ambassador7 , I support the efforts of helping patients and researchers collaborate and for patients to have meaningful participation in research.
Cathy Mumford
PBC Advocate
1 Learn About Clinical Trials, National Institutes of Health, https://clinicaltrials.gov/ct2/about-studies/learn
2 What is PBC? Primary Biliary Cholangitis, PBCers Organization, http://pbcers.org/what-is-pbc/
3 Cirrhosis, American Liver Foundation, http://www.liverfoundation.org/abouttheliver/info/cirrhosis/
4 F1rst In Human, Discovery Channel, F1rst In Human
5 Clinical Trials, National Institutes of Health, https://www.clinicaltrials.gov/
6 Clara Health, https://clarahealth.com/
7 Breatkthrough Crew Ambassador, https://clarahealth.com/breakthroughcrew
PBC Advocate 