A Patient's Perspective: Cathy Mumford

Cathy sailing with her husband on their boat Manu Kai in Channel Islands

Many patients 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?

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.”

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 PBC. 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 13 years. Two such clinical trials were Phase 2 interventional trials 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 have completed 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 five years ago, while at my first imaging appointment for a clinical trial I was enrolled in, I had two separate types of imaging tests done, both of which 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 with PBC 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 a 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 13 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 significantly. Having cirrhosis means a completely different outlook for me and the complications that are now part of my life, as constant monitoring for severe and even life-threatening complications 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 affect the brain’s cognitive ability and can lead to coma or death if left untreated). 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 of the South Pacific on our sailboat when he retires in a few short months. 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.

This results in a large difference in our 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 hundreds of 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. You never want to remove a “working” organ in favor of a transplant as the risks are always higher.

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 reasonably 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 have participated 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. I am willing to do so, so we can enjoy our retirement that we worked so hard to get to. This study I took part in has saved my life, literally and figuratively in my view.

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 or can participate in a trial that has the ability to, should do so. For some, it is their only hope.

A television show on the Discovery Channel entitled F1rst In Human shows viewers why people are willing to participate in the first clinical trials in humans for a specific therapy… it’s their 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, it’s not a matter of life or death at this point, it’s a matter of the quality of that life.

Researchers and pharmaceutical companies are finally beginning to engage with patients very early in the clinical trial design phase. This allows real patients to explain the issues and challenges they have living with their disease as well as defining meaningful “end-points” that truly impact the patient rather than just account for a 15% decrease in a biochemical marker in their blood that shows the drug is “helping” the patient.

We all want to live longer and in living, we want to have a quality and meaningful life.. A drug that makes us feel like zombies but slows down cancer growth might not truly be best for patients in lieu of one that reduces symptoms and cancer growth.

Should you have the opportunity to engage in this aspect of clinical trials, I strongly encourage you to do so. By making their work “humanized”, having a face to put to why they go to work every day, motivates them to bring meaningful change for us. If a study is poorly designed at the beginning, the likelihood of a positive outcome is much less than one that is well designed with a patient’s voice included.

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 to 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 Health platform is built with the patient in mind. It is a tool to help navigate the often-complicated world of clinical trials and helps you match with opportunities you may be interested in.

As a member of the Breakthrough Crew Ambassador, I support the efforts of helping patients and researchers collaborate and for patients to have meaningful participation in research.

Cathy Mumford,

Patient Advocate and member of Clara Health’s Breakthrough Crew

Primary Biliary Cholangitis (PBC) -

Cirrhosis -